The DOI matches its Crossref record; 63 of the 64 references it cites were found in a registry or an index.
High-throughput discovery of novel developmental phenotypes
Open accessAbstract
Approximately one-third of all mammalian genes are essential for life. Phenotypes resulting from knockouts of these genes in mice have provided tremendous insight into gene function and congenital disorders. As part of the International Mouse Phenotyping Consortium effort to generate and phenotypically characterize 5,000 knockout mouse lines, here we identify 410 lethal genes during the production of the first 1,751 unique gene knockouts. Using a standardized phenotyping platform that incorporates high-resolution 3D imaging, we identify phenotypes at multiple time points for previously uncharacterized genes and additional phenotypes for genes with previously reported mutant phenotypes. Unexpectedly, our analysis reveals that incomplete penetrance and variable expressivity are common even on a defined genetic background. In addition, we show that human disease genes are enriched for essential genes, thus providing a dataset that facilitates the prioritization and validation of mutations identified in clinical sequencing efforts.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The cited source says what the claim attributes to it.
In the citing paper
“Their recent analysis of 1,751 unique gene knockouts found that human disease genes are enriched for essential genes38”
From Unexplored therapeutic opportunities in the human genome (2018) · cites this paper as [38]
The cited source says what the claim attributes to it.
In the citing paper
“Growing resources of well-characterized gene knockouts in mouse58 and other model organisms will further help to discover novel gene losses that are potential causes or consequences of phenotypic evolution.”
From A genomics approach reveals insights into the importance of gene losses for mammalian adaptations (2018) · cites this paper as [58]
The check wasn’t confident either way, so it gives no verdict — never disputed.
In the citing paper
“ZNF692 knock-out mice do not exhibit a teratogenic phenotype (International Mouse Phenotyping Consortium et al., 2016)”
From Thalidomide promotes degradation of SALL4, a transcription factor implicated in Duane Radial Ray syndrome (2018) · cites this paper as International Mouse Phenotyping Consortium et al., 2016
Experimental — accuracy not yet measuredIn the citing paper
“The newly added data includes mouse and rat proteins from UniProt (5), with their associated phenotype data extracted from the International Mouse Phenotyping Consortium (6) and the Rat Genome Database (7), respectively.”
From TCRD and pharos 2021: mining the human proteome for disease biology (2021) · cites this paper as [6]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Gene Ontology: tool for the unification of biology
Ashburner, M., Ball, C. A., Blake, J. A., Botstein, D., Butler, H., Cherry, J. M., Davis, A. P., Dolinski, K., Dwight, S. S., Eppig, J. T., et al. (2000) · Nature Genetics · doi:10.1038/75556 · Cited by 43,206
Analysis of protein-coding genetic variation in 60,706 humans
Exome Aggregation Consortium, Lek, M., Karczewski, K. J., Minikel, E. V., Samocha, K. E., Banks, E., Fennell, T., O’Donnell-Luria, A. H., Ware, J. S., Hill, A. J., et al. (2016) · Nature · doi:10.1038/nature19057 · Cited by 9,587
Self-citationThresholding of statistical maps in functional neuroimaging using the false discovery rate
Genovese, C. R., Lazar, N. A., & Nichols, T. (2002) · NeuroImage · doi:10.1006/nimg.2001.1037 · Cited by 4,923
A reproducible evaluation of ANTs similarity metric performance in brain image registration
Avants, B. B., Tustison, N. J., Song, G., Cook, P. A., Klein, A., & Gee, J. C. (2011) · NeuroImage · doi:10.1016/j.neuroimage.2010.09.025 · Cited by 4,796
Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders
Hamosh, A. (2004) · Nucleic Acids Research · doi:10.1093/nar/gki033 · Cited by 3,443
Automatic 3D intersubject registration of MR volumetric data in standardized Talairach space
Collins, D. L., Neelin, P., Peters, T. M., & Evans, A. C. (1994) · Journal of Computer Assisted Tomography · doi:10.1097/00004728-199403000-00005 · Cited by 3,431 · cited 2×
“All registrations were performed using a combination of the mni_autoreg tools 9 and ANTS 10 .”
InfluentialThe NHGRI GWAS Catalog, a curated resource of SNP-trait associations
Welter, D., MacArthur, J., Morales, J., Burdett, T., Hall, P., Junkins, H., Klemm, A., Flicek, P., Manolio, T., Hindorff, L., et al. (2014) · Nucleic Acids Research · doi:10.1093/nar/gkt1229 · Cited by 2,707
Self-citationBelieve it or not: how much can we rely on published data on potential drug targets?
Prinz, F., Schlange, T., & Asadullah, K. (2011) · Nature Reviews Drug Discovery · doi:10.1038/nrd3439-c1 · Cited by 1,888
Human Gene Mutation Database (HGMD®): 2003 update
Stenson, P., Ball, E. V., Mort, M., Phillips, A. D., Shiel, J. A., Thomas, N., Abeysinghe, S. S., Krawczak, M., & Cooper, D. (2003) · Human Mutation · doi:10.1002/humu.10212 · Cited by 1,887
A conditional knockout resource for the genome-wide study of mouse gene function
Skarnes, W. C., Rosen, B., West, A. P., Koutsourakis, M., Bushell, W., Iyer, V., Mujica, A. O., Thomas, M., Harrow, J., Cox, T., et al. (2011) · Nature · doi:10.1038/nature10163 · Cited by 1,708
Self-citation
Flagged first, then by citations
1 of the 64 references couldn’t be matched to a known paper.
Cited by
Sorted by citations
Items 501–600 of 998
Bang, J., Han, M., Yoo, T.-J., Qiao, L., Jung, J., Na, J.-W., Carlson, B. A., Gladyshev, V. N., Hatfield, D. L., Kim, J., et al. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms222111647 · Cited by 15
Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency
Gofin, Y., Wang, T., Gillentine, M. A., Scott, T. M., Berry, A. M., Azamian, M. S., Genetti, C. A., Agrawal, P. B., Picker, J. D., Wojcik, M. H., et al. (2022) · Human Mutation · doi:10.1002/humu.24332 · Cited by 15
Handschuh, S., Okada, C. T. C., Walter, I., Aurich, C., & Glösmann, M. (2022) · Anatomia Histologia Embryologia · doi:10.1111/ahe.12834 · Cited by 15
Heparan sulfate proteoglycans (HSPGs) of the ocular lens
Wishart, T. F. L., & Lovicu, F. J. (2022) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2022.101118 · Cited by 15
A bioimage informatics platform for high-throughput embryo phenotyping
Brown, J. M., Horner, N., Lawson, T. N., Fiegel, T., Greenaway, S., Morgan, H., Ring, N., Santos, L., Sneddon, D. J., Teboul, L., et al. (2016) · Briefings in Bioinformatics · doi:10.1093/bib/bbw101 · Cited by 15
Self-citationInverted formin 2 regulates intracellular trafficking, placentation, and pregnancy outcome
Lamm, K. Y. B., Johnson, M. L., Phillips, J. B., Muntifering, M., James, J. M., Jones, H. N., Redline, R. W., Rokas, A., & Muglia, L. J. (2018) · eLife · doi:10.7554/elife.31150 · Cited by 14
Sundberg, J. P., Pratt, C. H., Silva, K. A., Kennedy, V. E., Qin, W., Stearns, T. M., Frost, J., Sundberg, B. A., & Bowcock, A. M. (2019) · Experimental and Molecular Pathology · doi:10.1016/j.yexmp.2019.104286 · Cited by 15
Caplan, R., Mefford, H. C., Berl, M. M., Chang, B. S., Lin, J. J., Mazarati, A. M., Fureman, B. E., & Dingledine, R. J. (2016) · Epiliepsy currents/Epilepsy currents · doi:10.5698/1535-7511-16.3.182 · Cited by 15
Erratum: Corrigendum: High-throughput discovery of novel developmental phenotypes
Dickinson, M. E., Flenniken, A. M., Ji, X., Teboul, L., Wong, M. D., White, J. K., Meehan, T. F., Weninger, W. J., Westerberg, H., Adissu, H. A., et al. (2017) · Nature · doi:10.1038/nature24643 · Cited by 15
Self-citationSex-determining 3D regulatory hubs revealed by genome spatial auto-correlation analysisPreprint
Mota-Gómez, I., Rodríguez, J. A., Dupont, S. M., Lao, O., Jedamzick, J., Kuhn, R., Lacadie, S., Garcia-Moreno, S. A., Hurtado, A., Acemel, R. D., et al. (2022) · bioRxiv · doi:10.1101/2022.11.18.516861 · Cited by 9
Differential effects by sex with Kmt5b loss
Wickramasekara, R. N., Robertson, B., Hulen, J., Hallgren, J., & Stessman, H. A. F. (2021) · Autism Research · doi:10.1002/aur.2516 · Cited by 15
Zhang, G., Deighan, A. G., Raj, A., Robinson, L. L., Donato, H., Garland, G., Leland, M., Martin-McNulty, B., Kolumam, G. A., Riegler, J., et al. (2021) · Genetics · doi:10.1093/genetics/iyab157 · Cited by 13
Lindberg, F. A., Nordenankar, K., & Fredriksson, R. (2022) · Frontiers in Behavioral Neuroscience · doi:10.3389/fnbeh.2022.840987 · Cited by 15
Vogelezang, S., Bradfield, J. P., Vogelezang, S., Bradfield, J. P., Johansson, S., Stergiakouli, E., Thiering, E., Pennell, C. E., Ahluwalia, T. S., Karhunen, V., et al. (2022) · BMC Medical Genomics · doi:10.1186/s12920-022-01281-1 · Cited by 14
Du, J., Estrella, M. A., Solorio-Kirpichyan, K., Jeffrey, P. D., & Korennykh, A. V. (2022) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2200923119 · Cited by 14
Mendelian gene identification through mouse embryo viability screening
Cacheiro, P., Westerberg, C. H., Mager, J., Dickinson, M. E., Nutter, L. M. J., Muñoz‐Fuentes, V., Hsu, C., den Veyver, I. B. V., Flenniken, A. M., McKerlie, C., et al. (2022) · Genome Medicine · doi:10.1186/s13073-022-01118-7 · Cited by 12
Self-citationZhu, X., Xu, M., Leu, N. A., Morrisey, E. E., & Millar, S. E. (2023) · Disease Models & Mechanisms · doi:10.1242/dmm.049876 · Cited by 14
Elliott, K. H., Balchand, S. K., Paese, C. L. B., Chang, C., Yang, Y., Brown, K. M., Rasicci, D. T., He, H., Thorner, K., Chaturvedi, P., et al. (2023) · Development · doi:10.1242/dev.201237 · Cited by 15
Self-citationBruel, A., Ganga, A. K., Nosková, L., Valenzuela, I., Martinovic, J., Duffourd, Y., Zikánová, M., Majer, F., Kmoch, S., Mohler, M., et al. (2023) · Human Molecular Genetics · doi:10.1093/hmg/ddad109 · Cited by 14
Proteins with amino acid repeats constitute a rapidly evolvable and human-specific essentialome
Singh, A. K., Amar, I., Ramadasan, H., Kappagantula, K. S., & Chavali, S. (2023) · Cell Reports · doi:10.1016/j.celrep.2023.112811 · Cited by 17
Bhattacharjee, R., Jolly, L. A., Corbett, M. A., Wee, I. C., Rao, S. R., Gardner, A. E., Ritchie, T., van Hugte, E., Ciptasari, U., Piltz, S., et al. (2024) · Nature Communications · doi:10.1038/s41467-024-45121-5 · Cited by 15
Prevalence of and gene regulatory constraints on transcriptional adaptation in single cells
Mellis, I. A., Bodkin, N., Melzer, M. E., & Goyal, Y. (2024) · Genome biology · doi:10.1186/s13059-024-03351-2 · Cited by 17
Recent progress on bismuth-based materials for full-spectrum-driven photocatalysis
Liu, J., Du, S., Zhu, Q., Labidi, A., Wang, H., & Wang, C. (2024) · Journal of environmental chemical engineering · doi:10.1016/j.jece.2024.114790 · Cited by 14
MorPhiC Consortium: towards functional characterization of all human genes
Adli, M., Przybyla, L., Burdett, T., Burridge, P. W., Cacheiro, P., Chang, H. Y., Engreitz, J., Gilbert, L. A., Greenleaf, W. J., Hsu, L.-I., et al. (2025) · Nature · doi:10.1038/s41586-024-08243-w · Cited by 21
Self-citationThomas, H. B., Demain, L. A. M., Cabrera‐Orefice, A., Schrauwen, I., Shamseldin, H. E., Rea, A., Bharadwaj, T., Smith, T. B., Oláhová, M., Thompson, K., et al. (2025) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2025.02.005 · Cited by 14
Why Genetic Effects of Radiation are Observed in Mice but not in Humans
Nakamura, N. (2017) · Radiation Research · doi:10.1667/rr14947.1 · Cited by 15
Guo, W., Zhu, X., Yan, L., & Qiao, J. (2018) · Journal of genetics and genomics/Journal of Genetics and Genomics · doi:10.1016/j.jgg.2018.08.004 · Cited by 14
Gao, X.-L., Tian, W., Liu, B., Wu, J., Xie, W., & Shen, Q. (2019) · Journal of Biological Chemistry · doi:10.1074/jbc.ra119.010616 · Cited by 14
Self-citationZhang, H., Liu, L., Ni, J., Wei, X., Feng, G.-J., Yang, X., Xu, Q., Zhang, Z.-J., Hai, R., Tian, Q., et al. (2020) · Osteoporosis International · doi:10.1007/s00198-020-05389-x · Cited by 14
Embryonic Mouse Cardiodynamic OCT Imaging
Lopez, A. L., Wang, S., & Larina, I. V. (2020) · Journal of Cardiovascular Development and Disease · doi:10.3390/jcdd7040042 · Cited by 14
Li, Q., Chen, W., Wang, C., Liu, Z., Gu, Y., Xu, X., Xu, J., Jiang, T., Xu, M., Wang, Y., et al. (2021) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2021.06.004 · Cited by 14
Mouse mutagenesis and phenotyping to generate models of development and disease
Gridley, T., & Murray, S. A. (2022) · Current topics in developmental biology/Current Topics in Developmental Biology · doi:10.1016/bs.ctdb.2022.02.012 · Cited by 14
Self-citationRichards, E. J., & Martin, C. H. (2022) · Proceedings of the Royal Society B Biological Sciences · doi:10.1098/rspb.2022.0613 · Cited by 13
Unique SMYD5 Structure Revealed by AlphaFold Correlates with Its Functional Divergence
Zhang, Y., Alshammari, E. S., Sobota, J., Yang, A., Li, C., & Yang, Z. (2022) · Biomolecules · doi:10.3390/biom12060783 · Cited by 14
Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality
Oddsson, Á., Sulem, P., Sveinbjörnsson, G., Arnadottir, G. A., Steinthórsdóttir, V., Halldorsson, G. H., Atlason, B. A., Oskarsson, G. R., Helgason, H., Nielsen, H. S., et al. (2023) · Nature Communications · doi:10.1038/s41467-023-38951-2 · Cited by 16
Self-citationSystematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program
Sundberg, J. P., Dadras, S. S., Silva, K. A., Kennedy, V. E., Garland, G., Murray, S. A., Sundberg, B. A., Schofield, P. N., & Pratt, C. H. (2017) · PLoS ONE · doi:10.1371/journal.pone.0180682 · Cited by 14
Self-citationGgnbp2-Null Mutation in Mice Leads to Male Infertility due to a Defect at the Spermiogenesis Stage
Liu, L., He, Y., Guo, K., Zhou, L., Li, X., Tseng, M. T., Cai, L., Lan, Z., Zhou, J., Wang, H., et al. (2017) · American Journal Of Pathology · doi:10.1016/j.ajpath.2017.07.016 · Cited by 14
A null allele of Dnaaf2 displays embryonic lethality and mimics human ciliary dyskinesia
Cheong, A., Degani, R. E., Tremblay, K. D., & Mager, J. (2019) · Human Molecular Genetics · doi:10.1093/hmg/ddz106 · Cited by 14
Male mice lacking ADAMTS-16 are fertile but exhibit testes of reduced weight
Livermore, C., Warr, N., Chalon, N., Siggers, P., Mianné, J., Codner, G. F., Teboul, L., Wells, S. E., & Greenfield, A. (2019) · Scientific Reports · doi:10.1038/s41598-019-53900-0 · Cited by 14
Self-citationRole of UDP-Sugar Receptor P2Y14 in Murine Osteoblasts
Mikolajewicz, N., & Komarova, S. V. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21082747 · Cited by 14
Tissue context determines the penetrance of regulatory DNA variation
Halow, J. M., Byron, R., Hogan, M. S., Ordóñez, R., Groudine, M. T., Bender, M. A., Stamatoyannopoulos, J. A., & Maurano, M. T. (2021) · Nature Communications · doi:10.1038/s41467-021-23139-3 · Cited by 15
Characterising a homozygous two‐exon deletion in UQCRH: comparing human and mouse phenotypes
Vidali, S., Gerlini, R., Thompson, K., Urquhart, J. E., Meisterknecht, J., Aguilar‐Pimentel, J. A., Amarie, O. V., Becker, L., Breen, C., Calzada‐Wack, J., et al. (2021) · EMBO Molecular Medicine · doi:10.15252/emmm.202114397 · Cited by 15
Self-citationChang, B. S., Krishnan, V., Dulla, C. G., Jetté, N., Marsh, E. D., Dacks, P. A., Whittemore, V., & Poduri, A. (2020) · Epiliepsy currents/Epilepsy currents · doi:10.1177/1535759719895280 · Cited by 15
ProMetIS, deep phenotyping of mouse models by combined proteomics and metabolomics analysis
Imbert, A., Rompais, M., Selloum, M., Castelli, F. A., Mouton‐Barbosa, E., Brandolini-Bunlon, M., Chu‐Van, E., Joly, C., Hirschler, A., Roger, P., et al. (2021) · Scientific Data · doi:10.1038/s41597-021-01095-3 · Cited by 18
Self-citationVillani, F., Sasani, T. A., Maksimov, M., Gunturkun, M. H., Ma, N., Ren, Y.-Y., Rothschild, D., Chen, H., Lu, L., Dumont, B. L., et al. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.04.21.489063 · Cited by 15
A deep catalog of protein-coding variation in 985,830 individualsPreprint
Sun, K., Bai, X., Chen, S., Bao, S., Kapoor, M., Zhang, C., Backman, J., Joseph, T., Maxwell, E. K., Mitra, G., et al. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.05.09.539329 · Cited by 14
TM2D genes regulate Notch signaling and neuronal function in Drosophila
Salazar, J. L., Yang, S.-A., Lin, Y. Q., Li-Kroeger, D., Marcogliese, P. C., Deal, S. L., Neely, G. G., & Yamamoto, S. (2021) · PLOS Genetics · doi:10.1371/journal.pgen.1009962 · Cited by 13
Skerrett-Byrne, D. A., Pépin, A.-S., Laurent, K., Beckers, J., Schneider, R., de Angelis, M. H., & Teperino, R. (2025) · Molecular Nutrition & Food Research · doi:10.1002/mnfr.70261 · Cited by 18
Wotton, J. M., Peterson, E., Flenniken, A. M., Bains, R. S., Veeraragavan, S., Bower, L. R., Bubier, J. A., Parisien, M., Bezginov, A., Haselimashhadi, H., et al. (2021) · Pain · doi:10.1097/j.pain.0000000000002481 · Cited by 13
Self-citationPannexin 2 is expressed in murine skin and promotes UVB-induced apoptosis of keratinocytes
Sanchez‐Pupo, R. E., O’Donnell, B. L., Johnston, D., Gyenis, L., Litchfield, D. W., & Peñuela, S. (2022) · Molecular Biology of the Cell · doi:10.1091/mbc.e21-08-0387 · Cited by 13
Hillis, D. A., & Garland, T. (2022) · Genetics · doi:10.1093/genetics/iyac165 · Cited by 13
Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS
Zhao, Y., Wang, Y., Shi, L., McDonald‐McGinn, D. M., Crowley, T. B., McGinn, D. E., Tran, O., Miller, D., Lin, J.-R., Zackai, E. H., et al. (2023) · npj Genomic Medicine · doi:10.1038/s41525-023-00363-y · Cited by 14
Newton, S., Aguilar, C., Bunton-Stasyshyn, R. K. A., Flook, M., Stewart, M. E., Marcotti, W., Brown, S. D. M., & Bowl, M. R. (2023) · iScience · doi:10.1016/j.isci.2023.108056 · Cited by 13
Self-citationQu, L., Tang, Y. P., Wu, J., Yun, X., Lo, H. H., Song, L., Wang, X., Wang, H., Zhang, R., Liu, M., et al. (2024) · Biomarker Research · doi:10.1186/s40364-024-00691-w · Cited by 13
Jespersgaard, C., Hey, C. A. B., Ilginis, T., Hjortshøj, T. D., Fang, M., Bertelsen, M., Bech, N., Jensen, H. S., Larsen, L. J., Tümer, Z., et al. (2020) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.61.2.29 · Cited by 13
Kafer, G. R., & Cesare, A. J. (2020) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2020.00416 · Cited by 12
Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutations
Bryant, D., Seda, M., Peskett, E., Maurer, C., Pomeranz, G., Ghosh, M., Hawkins, T. A., Cleak, J., Datta, S., Hariri, H. H., et al. (2020) · Scientific Reports · doi:10.1038/s41598-020-70797-2 · Cited by 13
Self-citationYippee like 4 (Ypel4) is essential for normal mouse red blood cell membrane integrity
Mattebo, A., Sen, T., Jassinskaja, M., Pimková, K., González-Albo, I. P., Alattar, A. G., Ramakrishnan, R., Lang, S., Järås, M., Hansson, J., et al. (2021) · Scientific Reports · doi:10.1038/s41598-021-95291-1 · Cited by 13
Delineating a serotonin 1B receptor circuit for appetite suppression in mice
Li, L., Wyler, S. C., Mercado, L. L., Xu, B., Oh, Y., SWATI, S., Chen, X., Wan, R., Arnold, A. G., Jia, L., et al. (2022) · The Journal of Experimental Medicine · doi:10.1084/jem.20212307 · Cited by 13
Hadžiselimović, F., Cathomas, G., Verkauskas, G., Dasevičius, D., & Stadler, M. B. (2018) · Genes · doi:10.3390/genes9080391 · Cited by 13
Genetic analysis of Pycr1 and Pycr2 in mice
Stum, M., Tadenev, A. L. D., Seburn, K. L., Miers, K. E., Poon, P. P., McMaster, C. R., Robinson, C. A., Kane, C., Silva, K. A., Cliften, P. F., et al. (2021) · Genetics · doi:10.1093/genetics/iyab048 · Cited by 12
The effects of aging on molecular modulators of human embryo implantation
Ntostis, P., Swanson, G., Kokkali, G., Iles, D., Huntriss, J., Pantou, A., Tzetis, M., Pantos, K., Picton, H. M., Krawetz, S. A., et al. (2021) · iScience · doi:10.1016/j.isci.2021.102751 · Cited by 13
Stoeger, T., & Amaral, L. A. N. (2022) · PLoS Biology · doi:10.1371/journal.pbio.3001520 · Cited by 10
Jordan, D. M., Verbanck, M., & Do, R. (2018) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/311332 · Cited by 16
Spence, J. P., Mostafavi, H., Ota, M., Milind, N., Gjorgjieva, T., Smith, C. J., Simons, Y. B., Sella, G., & Pritchard, J. K. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.12.12.628073 · Cited by 13
Horii, T., Kobayashi, R., Kimura, M., Morita, S., & Hatada, I. (2020) · Cells · doi:10.3390/cells9051088 · Cited by 12
Mtu1 defects are correlated with reduced osteogenic differentiation
He, Q., Zhao, Q., Li, Q., Pan, R., Li, X., & Chen, Y. (2021) · Cell Death and Disease · doi:10.1038/s41419-020-03345-5 · Cited by 12
Sorting nexin 24 is required for α-granule biogenesis and cargo delivery in megakaryocytes
Lacey, J., Webster, S. J., Heath, P. R., Hill, C. J., Nicholson-Goult, L., Wagner, B. E., Khan, A. O., Morgan, N. V., Makris, M., & Daly, M. E. (2022) · Haematologica · doi:10.3324/haematol.2021.279636 · Cited by 12
Self-citationQi, T., Jing, R., Ma, B., Hu, C., Wen, C., Shao, Y., & Pei, C. (2022) · PubMed Central · doi:10.1167/iovs.63.4.11 · Cited by 12
Levy, K. A., Weisz, E. D., & Jongens, T. A. (2022) · Human Molecular Genetics · doi:10.1093/hmg/ddac115 · Cited by 12
Cusick, J., Alcaide, J., & Shi, Y. H. (2023) · Biomedicines · doi:10.3390/biomedicines11102695 · Cited by 12
Morphomics via next-generation electron microscopy
Son, R., Yamazawa, K., Oguchi, A., Suga, M., Tamura, M., Yanagita, M., Murakawa, Y., & Kume, S. (2023) · Journal of Molecular Cell Biology · doi:10.1093/jmcb/mjad081 · Cited by 13
Self-citationAmin‐Beidokhti, M., Qu, J.-H., Belur, S., Çakmak, H., Greenwood, E. A., Lathi, R. B., Sirota, M., Snyder, M. P., Yatsenko, S. A., & Rajkovic, A. (2024) · Human Genetics · doi:10.1007/s00439-023-02637-y · Cited by 15
Chang, H., Pan, Y., Landrette, S. F., Ding, S., Dong, Y., Liu, L., Tian, L., Chai, H., Li, P., Li, D., et al. (2019) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1906354116 · Cited by 12
Two novel pleiotropic loci associated with osteoporosis and abdominal obesity
Liu, L., Yang, X., Zhang, H., Zhang, Z., Wei, X., Feng, G.-J., Liu, J., Peng, H., Hai, R., Shen, H., et al. (2020) · Human Genetics · doi:10.1007/s00439-020-02155-1 · Cited by 15
Cahill, L. S., Cameron, J. M., Winterburn, J. L., Macos, P., Hoggarth, J., Dzamba, M., Brudno, M., Nutter, L. M. J., Sproule, T. J., Burgess, R. W., et al. (2020) · Journal of Neuroscience · doi:10.1523/jneurosci.0013-20.2020 · Cited by 15
Self-citationYusuff, T., Jensen, M., Yennawar, S., Pizzo, L., Karthikeyan, S., Gould, D. J., Sarker, A., Gedvilaite, E., Matsui, Y., Iyer, J. S., et al. (2020) · PLoS Genetics · doi:10.1371/journal.pgen.1008792 · Cited by 12
Turakhia, Y., Chen, H. I., Marcovitz, A., & Bejerano, G. (2020) · Nucleic Acids Research · doi:10.1093/nar/gkaa550 · Cited by 12
Loss of POLR1D results in embryonic lethality prior to blastocyst formation in mice
Miao, X., Sun, T., Golan, M., Mager, J., & Cui, W. (2020) · Molecular Reproduction and Development · doi:10.1002/mrd.23427 · Cited by 12
Novel gene discovery for hearing loss and other routes to increased diagnostic rates
Kremer, H. (2021) · Human Genetics · doi:10.1007/s00439-021-02374-0 · Cited by 11
The dihydropyrimidine dehydrogenase gene contributes to heritable differences in sleep in mice
Keenan, B. T., Galante, R. J., Lian, J., Zhang, L., Guo, X., Veatch, O. J., Chesler, E. J., O’Brien, W. T., Svenson, K. L., Churchill, G. A., et al. (2021) · Current Biology · doi:10.1016/j.cub.2021.09.049 · Cited by 15
Self-citationGeneration of Floxed Mice by Sequential Electroporation
Horii, T., Kobayashi, R., & Hatada, I. (2023) · Methods in molecular biology · doi:10.1007/978-1-0716-3016-7_11 · Cited by 12
Properties of human genes guided by their enrichment in rare and common variants
Alhuzimi, E. M., Leal, L. G., Sternberg, M. J. E., & David, A. (2017) · Human Mutation · doi:10.1002/humu.23377 · Cited by 12
Greenfield, A. (2018) · British Medical Bulletin · doi:10.1093/bmb/ldy020 · Cited by 12
A new, simple and efficient liquid nitrogen free method to cryopreserve mouse spermatozoa at −80 °C
Raspa, M., Fray, M., Paoletti, R., Montoliu, L., Giuliani, A., & Scavizzi, F. (2018) · Theriogenology · doi:10.1016/j.theriogenology.2018.06.020 · Cited by 12
Cheng, W., Ramachandran, S., & Crawford, L. A. (2020) · PLoS Genetics · doi:10.1371/journal.pgen.1008855 · Cited by 13
Hitomi, Y., Aiba, Y., Kawai, Y., Kojima, K., Ueno, K., Nishida, N., Kawashima, M., Gervais, O., Khor, S., Nagasaki, M., et al. (2021) · Scientific Reports · doi:10.1038/s41598-021-84042-x · Cited by 13
Wendling, O., Hentsch, D., Jacobs, H., Lemercier, N., Taubert, S., Pertuy, F., Vonesch, J., Sorg, T., Michele, M. D., Cam, L. L., et al. (2021) · Biomedicines · doi:10.3390/biomedicines9070767 · Cited by 11
Self-citationBergen, N. J. V., Bell, K. M., Carey, K. T., Gear, R., Massey, S., Murrell, E. K., Gallacher, L., Pope, K., Lockhart, P. J., Kornberg, A. J., et al. (2021) · Human Molecular Genetics · doi:10.1093/hmg/ddab248 · Cited by 12
MusMorph, a database of standardized mouse morphology data for morphometric meta-analyses
Devine, J., Vidal‐García, M., Liu, W., Neves, A., Vercio, L. L., Green, R. M., Richbourg, H. A., Marchini, M., Unger, C. M., Nickle, A. C., et al. (2022) · Scientific Data · doi:10.1038/s41597-022-01338-x · Cited by 12
Self-citationBanerjee, S., Daetwyler, S., Bai, X., Michaud, M., Jouhet, J., Madhugiri, S., Johnson, E., Wang, C.-W., Fiolka, R. P., Toulmay, A., et al. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.02.04.578804 · Cited by 12
Adhesion G protein-coupled receptors
Langenhan, T., Anderson, G. R., Araç, D., Aust, G., Avila-Zozaya, M., Bagger, S. M., Barth, P., Berndt, S., Blacklow, S. C., Blanco-Redondo, B., et al. (2026) · Pharmacological Reviews · doi:10.1016/j.pharmr.2026.100116 · Cited by 15
Giudice, L. D., Pontieri, P., Aletta, M., & Calcagnile, M. (2023) · Biology · doi:10.3390/biology12070972 · Cited by 12
Jeon, Y. G., Nahmgoong, H., Oh, J., Lee, D., Kim, D. W., Kim, Y. Y., Kim, Y. Y., Ji, Y., Han, J. S., Kim, S. M., et al. (2024) · Nature Communications · doi:10.1038/s41467-024-45270-7 · Cited by 11
Li, Z. A., Bajpai, A. K., Wang, R., Liu, Y., Webby, R. J., Wilk, E., Gu, W., Schughart, K., Li, K., & Lu, L. (2024) · Virus Research · doi:10.1016/j.virusres.2024.199335 · Cited by 10
ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations
Laugwitz, L., Cheng, F., Collins, S. C., Hustinx, A., Navarro, N., Welsch, S., Cox, H., Hsieh, T., Vijayananth, A., Buchert, R., et al. (2024) · Brain · doi:10.1093/brain/awae058 · Cited by 11
Hamilton, M., Russell, S. J., Swanson, G., Krawetz, S. A., Menezes, K., Moskovtsev, S. I., & Librach, C. L. (2024) · Scientific Reports · doi:10.1038/s41598-024-60586-6 · Cited by 12
Production of a heterozygous exon skipping model of common marmosets using gene-editing technology
Sato, K., Sasaguri, H., Kumita, W., Sakuma, T., Morioka, T., Nagata, K., Inoue, T., Kurotaki, Y., Mihira, N., Tagami, M., et al. (2024) · Lab Animal · doi:10.1038/s41684-024-01424-0 · Cited by 12
A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders
Lee, A. S., Ayers, L. J., Kosicki, M., Chan, W. M., Fozo, L., Pratt, B. M., Collins, T. E., Zhao, B., Rose, M. F., Sanchis‐Juan, A., et al. (2024) · Nature Communications · doi:10.1038/s41467-024-52463-7 · Cited by 12
Self-citationThe essentiality of drug targets: an analysis of current literature and genomic databases
Ji, X., Rajpal, D. K., & Freudenberg, J. (2018) · Drug Discovery Today · doi:10.1016/j.drudis.2018.11.002 · Cited by 9
Self-citation
Metadata
- Authors
- The International Mouse Phenotyping Consortium, Dickinson, M. E., Flenniken, A. M., Ji, X., Teboul, L., Wong, M. D., White, J. K., Meehan, T. F., Weninger, W. J., Westerberg, H., Adissu, H., Baker, C. N., Bower, L., Brown, J. M., Caddle, L. B., Chiani, F., Clary, D., Cleak, J., Daly, M. J., Denegre, J. M., Doe, B., Dolan, M. E., Edie, S. M., Fuchs, H., Gailus-Durner, V., Galli, A., Gambadoro, A., Gallegos, J., Guo, S., Horner, N. R., Hsu, C.-W., Johnson, S. J., Kalaga, S., Keith, L. C., Lanoue, L., Lawson, T. N., Lek, M., Mark, M., Marschall, S., Mason, J., McElwee, M. L., Newbigging, S., Nutter, L. M. J., Peterson, K. A., Ramirez-Solis, R., Rowland, D. J., Ryder, E., Samocha, K. E., Seavitt, J. R., Selloum, M., Szoke-Kovacs, Z., Tamura, M., Trainor, A. G., Tudose, I., Wakana, S., Warren, J., Wendling, O., West, D. B., Wong, L., Yoshiki, A., Wurst, W., MacArthur, D. G., Tocchini-Valentini, G. P., Gao, X., Flicek, P., Bradley, A., Skarnes, W. C., Justice, M. J., Parkinson, H. E., Moore, M., Wells, S., Braun, R. E., Svenson, K. L., de Angelis, M. H., Herault, Y., Mohun, T., Mallon, A.-M., Henkelman, R. M., Brown, S. D. M., Adams, D. J., Lloyd, K. C. K., McKerlie, C., Beaudet, A. L., Bućan, M., & Murray, S. A.
- Affiliations
- Mount Sinai Hospital (CA)
- University of Pennsylvania (US)
- Mary Lyon Centre at MRC Harwell (GB)
- Hospital for Sick Children (CA)
- Wellcome Sanger Institute (GB)
- European Bioinformatics Institute (GB)
- Medical University of Vienna (AT)
- Jackson Laboratory (US)
- University of California, Davis (US)
- National Research Council (IT)
- Broad Institute (US)
- Helmholtz Munich (DE)
- Baylor College of Medicine (US)
- Model Animal Research Center (CN)
- Centre National de la Recherche Scientifique (FR)
- RIKEN BioResource Research Center (JP)
- German Center for Neurodegenerative Diseases (DE)
- National Institute for Medical Research (GB)
- Corresponding author
- Murray, Stephen A.
- ORCID
- Dickinson, Mary E.
- Flenniken, Ann M.
- Ji, Xiao
- Teboul, Lydia
- White, Jacqueline K.
- Meehan, Terrence F.
- Weninger, Wolfgang J.
- Westerberg, Henrik
- Adissu, Hibret
- Baker, Candice N.
- Brown, James M.
- Chiani, Francesco
- Clary, Dave
- Daly, Mark J.
- Denegre, James M.
- Dolan, Mary E.
- Edie, Sarah M.
- Fuchs, Helmut
- Gambadoro, Alessia
- Gallegos, Juan
- Horner, Neil R.
- Hsu, Chih-Wei
- Johnson, Sara J.
- Lanoue, Louise
- Lawson, Thomas N.
- Lek, Monkol
- Mark, Manuel
- Marschall, Susan
- Mason, Jeremy
- Nutter, Lauryl M. J.
- Peterson, Kevin A.
- Rowland, Douglas J.
- Samocha, Kaitlin E.
- Selloum, Mohammed
- Szoke-Kovacs, Zsombor
- Tudose, Ilinca
- Wakana, Shigeharu
- Warren, Jonathan
- Yoshiki, Atsushi
- Wurst, Wolfgang
- MacArthur, Daniel G.
- Gao, Xiang
- Flicek, Paul
- Bradley, Allan
- Parkinson, Helen E.
- Moore, Mark
- Wells, Sara
- Braun, Robert E.
- Svenson, Karen L.
- Mallon, Ann-Marie
- Henkelman, R. Mark
- Brown, Steve D. M.
- Adams, David J.
- Lloyd, K. C. Kent
- McKerlie, Colin
- Beaudet, Arthur L.
- Bućan, Maja
- Murray, Stephen A.
- Venue
- Nature
- Published
- 2016-09-14
- Volume
- 537
- Issue
- 7621
- Pages
- 508-514
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- PMC
- PMC5295821
- OpenAlex
- W2518901523
- Cited by
- 1,196
- References
- 64
- Citations by year
- 2026: 76 · 2025: 86 · 2024: 115 · 2023: 148 · 2022: 145 · 2021: 186 · 2020: 147 · 2019: 124 · 2018: 90 · 2017: 64 · 2016: 10
- FWCI
- 78.01
- Type
- journal article
- Language
- en
- Update notices
- erratum (2017-11-08)
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- eScholarship (California Digital Library) (submittedVersion, other-oa)
- Digital Access to Scholarship at Harvard (DASH) (Harvard University) (submittedVersion, cc-by)
- HAL (submittedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- Lincoln Repository (University of Lincoln) (submittedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- Figshare (submittedVersion, cc-by)
- mediaTUM (Technical University of Munich) (submittedVersion, other-oa)
- The Mouseion at the JAXlibrary (Jackson Laboratory) (submittedVersion)
- Site cant be reached (submittedVersion)
- PuSH - Publication Server of Helmholtz Zentrum München (submittedVersion)
- Apollo (University of Cambridge) (submittedVersion)
- Apollo
- Funders
- Genome Canada (OGI- 051)
- Wellcome Trust
- Ontario Genomics (OGI-051)
- INFRAFRONTIER (01KX1012)
- Government of Canada
- Cancer Research UK (13031)
- Agence Nationale de la Recherche (ANR-10-INBS-07 PHENOMIN., ANR-10-INBS-07, ANR-10-IDEX-0002, ANR-10-IDEX, ANR-10-IDEX0002-02, ANR-10, ANR-10-INBS-0007)
- Institut National de la Santé et de la Recherche Médicale (ANR 10 IDEX 0002, ANR-10-INBS-07 PHENOMIN, ANR-10-IDEX-0002-02, ANR-10-INBS-07)
- Bundesministerium für Bildung und Forschung (01KX1012)
- Université de Strasbourg (ANR-10-IDEX- 0002, ANR-10-IDEX-0002-02)
- Centre National de la Recherche Scientifique (ANR-10-IDEX-0002-02, ANR-10-IDEX-0002)
- PHENOMIN (ANR-10-INBS-07)
- National Institutes of Health (U42OD011185, U42OD011175, U42OD011174, U54‐HG006348, HG006348, UM1OD023222, UM1OD023221, U42OD012210)
- Medical Research Council
- Japan Society for the Promotion of Science (15K06815, 26250024)
- National Human Genome Research Institute (U54HG006348, U54HG006370, U54HG006364, U54HG006332, UM1HG006348, UM1HG006370)
- National Eye Institute (P30EY002520)
- National Cancer Institute (P30CA093373, P30CA034196)
- National Institute of Diabetes and Digestive and Kidney Diseases (U2CDK092993)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Zebrafish Biomedical Research Applications
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Developmental Biology and Gene Regulation
- Keywords
- lethal genes, embryonic lethality, International Mouse Phenotyping Consortium, developmental phenotypes, incomplete penetrance, variable expressivity, essential genes, human disease genes, purifying selection, orthologs, congenital disorders
- MeSH terms
- Animals, Disease, Embryo, Mammalian, Genes, Lethal, Humans, Mice, Inbred C57BL, Mutation, Phenotype, Conserved Sequence, Sequence Homology, Mice, Knockout, Penetrance, Genes, Essential, Polymorphism, Single Nucleotide, Imaging, Three-Dimensional, Mice, Genome-Wide Association Study, High-Throughput Screening Assays
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
