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 601–700 of 998
Nittis, P. D., Efthymiou, S., Sarre, A., Guex, N., Chrast, J., Putoux, A., Sultan, T., Alvi, J. R., Rahman, Z. U., Zafar, F., et al. (2020) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2020-107015 · Cited by 11
Cleverley, K., Lee, W. C., Mumford, P., Collins, T., Rickman, M., Cunningham, T. J., Cleak, J., Mianné, J., Szoke-Kovacs, Z., Stewart, M. E., et al. (2021) · Mammalian Genome · doi:10.1007/s00335-021-09864-6 · Cited by 11
Self-citationGermline Saturation Mutagenesis Induces Skeletal Phenotypes in Mice
Rios, J. J., Denton, K., Russell, J. L., Kozlitina, J., Ferreira, C. R., Lewanda, A. F., Mayfield, J. E., Moresco, E. M. Y., Ludwig, S. M., Tang, M., et al. (2020) · Journal of Bone and Mineral Research · doi:10.1002/jbmr.4323 · Cited by 12
Loss of Wiz Function Affects Methylation Pattern in Palate Development and Leads to Cleft Palate
Buková, I., Szczerkowska, K. I., Procházková, M., Beck, I. M., Procházka, J., & Sedláček, R. (2021) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2021.620692 · Cited by 11
Design and Implementation of High Throughput Screening Assays for Drug Discoveries
Bokhari, F. F., & Albukhari, A. (2021) · IntechOpen eBooks · doi:10.5772/intechopen.98733 · Cited by 11
Trigila, A. P., Pisciottano, F., & Franchini, L. F. (2021) · BMC Biology · doi:10.1186/s12915-021-01170-6 · Cited by 13
Li-Villarreal, N., Wong, R. L. Y., Garcia, M. D., Udan, R. S., Poché, R. A., Rasmussen, T. L., Rhyner, A. M., Wythe, J. D., & Dickinson, M. E. (2022) · Development · doi:10.1242/dev.200131 · Cited by 11
Self-citationIntegrative network analysis interweaves the missing links in cardiomyopathy diseasome
Chauhan, P. K., & Sowdhamini, R. (2022) · Scientific Reports · doi:10.1038/s41598-022-24246-x · Cited by 12
Analysis of genome-wide knockout mouse database identifies candidate ciliopathy genes
Higgins, K., Moore, B. A., Berberovic, Z., Adissu, H. A., Eskandarian, M., Flenniken, A. M., Shao, A., Imai, D. M., Clary, D. A., Lanoue, L., et al. (2022) · Scientific Reports · doi:10.1038/s41598-022-19710-7 · Cited by 10
Self-citationIdentification of Rare Variants Involved in High Myopia Unraveled by Whole Genome Sequencing
Haarman, A. E. G., Klaver, C. C. W., Tedja, M. S., Roosing, S., Astuti, G., Gilissen, C., Hoefsloot, L. H., van Tienhoven, M., Brands, T., Magielsen, F. J., et al. (2023) · Ophthalmology Science · doi:10.1016/j.xops.2023.100303 · Cited by 10
Hernandez-Gutierrez, A., Majid, S., Eberle, A. T., Choi, A., Sorkhdini, P., Yang, D., Yang, A. X., Norbrun, C., He, C. H., Lee, C.-M., et al. (2023) · Journal of Clinical Investigation · doi:10.1172/jci169583 · Cited by 11
Dose-efficient in vivo X-ray phase contrast imaging at micrometer resolution by Bragg magnifiers
Spiecker, R., Pfeiffer, P., Biswal, A., Shcherbinin, M., Spiecker, M., Hessdorfer, H., Hurst, M., Zharov, Y., Bellucci, V., Faragó, T., et al. (2023) · Optica · doi:10.1364/optica.500978 · Cited by 11
Mapping Cell Atlases at the Single‐Cell Level
Ye, F., Wang, J., Li, J., Mei, Y., & Guo, G. (2023) · Advanced Science · doi:10.1002/advs.202305449 · Cited by 13
Metrics to estimate differential co-expression networks
Gonzalez-Valbuena, E.-E., & Treviño, V. (2017) · BioData Mining · doi:10.1186/s13040-017-0152-6 · Cited by 11
CAPN5 genetic inactivation phenotype supports therapeutic inhibition trials
Wert, K. J., Koch, S., Velez, G., Hsu, C., Mahajan, M., Bassuk, A. G., Tsang, S. H., & Mahajan, V. B. (2019) · Human Mutation · doi:10.1002/humu.23894 · Cited by 11
Self-citationDavies, F. C. J., Hope, J. E., McLachlan, F., Marshall, G. F., Kaminioti-Dumont, L., Qarkaxhija, V., Nunez, F., Dando, O., Smith, C. S., Wood, E. R., et al. (2020) · Human Molecular Genetics · doi:10.1093/hmg/ddaa042 · Cited by 11
Expanding the phenotypic spectrum consequent upon de novo WDR37 missense variants
Hay, E., Henderson, R., Mansour, S., Deshpande, C., Jones, R. L., Nutan, S., Mankad, K., Young, R., Moosajee, M., & Arno, G. (2020) · Clinical Genetics · doi:10.1111/cge.13795 · Cited by 11
Al‐Thihli, K., Afting, C., Alhashmi, N., Mohammed, M., Sliwinski, S., Shibli, N. A., Al‐Said, K., Al‐Kasbi, G., Al‐Kharusi, K., Merle, U., et al. (2020) · Clinical Genetics · doi:10.1111/cge.13883 · Cited by 11
Characterizing modifier genes of cardiac fibrosis phenotype in hypertrophic cardiomyopathy
Xu, F., Chen, Y., Tillman, K. A., Cui, Y., Williams, R. W., Bhattacharya, S. K., Lu, L., & Sun, Y. (2021) · International Journal of Cardiology · doi:10.1016/j.ijcard.2021.01.047 · Cited by 11
Geyer, S. H., Maurer‐Gesek, B., Reissig, L. F., Rose, J., Prin, F., Wilson, R. J., Galli, A., Tudor, C. L., White, J. K., Mohun, T. J., et al. (2021) · Journal of Anatomy · doi:10.1111/joa.13536 · Cited by 11
Self-citationSoft windowing application to improve analysis of high-throughput phenotyping data
Haselimashhadi, H., Mason, J., Muñoz‐Fuentes, V., López, F., Babalola, K., Acar, E. F., Kumar, V., White, J. K., Flenniken, A. M., King, R., et al. (2019) · Bioinformatics · doi:10.1093/bioinformatics/btz744 · Cited by 10
Self-citationRecessive aminoacyl-tRNA synthetase disorders: lessons learned from in vivo disease models
Kalotay, E., Klugmann, M., Housley, G. D., & Fröhlich, D. (2023) · Frontiers in Neuroscience · doi:10.3389/fnins.2023.1182874 · Cited by 10
Lohanadan, K., Aßent, M., Linnemann, A., Schuld, J., Heukamp, L. C., Krause, K., Vorgerd, M., Reimann, J., Schänzer, A., Kirfel, G., et al. (2023) · Cells · doi:10.3390/cells13010085 · Cited by 10
Reconstructing human-specific regulatory functions in model systems
Baumgartner, M., Ji, Y., & Noonan, J. P. (2024) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2024.102259 · Cited by 9
XRCC3 loss leads to midgestational embryonic lethality in mice
Prakash, R., Freyer, L., Saiz, N., Gavrilov, S., Wang, R. Q., Romanienko, P. J., Lacy, E., Hadjantonakis, A., & Jasin, M. (2021) · DNA repair · doi:10.1016/j.dnarep.2021.103227 · Cited by 11
Ramirez, N.-G. P., Lee, J., Zheng, Y., Li, L., Dennis, B., Chen, D., Challa, A., Planelles, V., Westover, K. D., Alto, N. M., et al. (2022) · Nature Communications · doi:10.1038/s41467-022-28772-0 · Cited by 10
Cytokine Receptor-Like Factor 3 (CRLF3) Contributes to Early Zebrafish Hematopoiesis
Taznin, T., Perera, K. L., Gibert, Y., Ward, A. C., & Liongue, C. (2022) · Frontiers in Immunology · doi:10.3389/fimmu.2022.910428 · Cited by 10
Elsharkawi, I., Wongkittichote, P., Daniel, E. J. P., Starosta, R. T., Ueda, K., Ng, B. G., Freeze, H. H., He, M., & Shinawi, M. S. (2022) · Journal of Inherited Metabolic Disease · doi:10.1002/jimd.12565 · Cited by 10
Dominant aminoacyl-tRNA synthetase disorders: lessons learned from in vivo disease models
Kalotay, E., Klugmann, M., Housley, G. D., & Fröhlich, D. (2023) · Frontiers in Neuroscience · doi:10.3389/fnins.2023.1182845 · Cited by 10
Arancibia-Opazo, S., Contreras-Riquelme, S., Sánchez, M., Cisternas-Olmedo, M., Vidal, R. L., Martín, A. J. M., & Sáez, M. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms241310848 · Cited by 10
Interspecies control of development during mammalian gastrulation
Simpson, L., & Alberio, R. (2023) · Emerging Topics in Life Sciences · doi:10.1042/etls20230083 · Cited by 11
TATA-binding associated factors have distinct roles during early mammalian development
He, X. D., Phillips, S., Hioki, K. A., Majhi, P. D., Babbitt, C. C., Tremblay, K. D., Pobezinsky, L. A., & Mager, J. (2024) · Developmental Biology · doi:10.1016/j.ydbio.2024.04.002 · Cited by 10
Chundru, V. K., Zhang, Z., Walter, K., Lindsay, S., Danecek, P., Eberhardt, R. Y., Gardner, E. J., Malawsky, D. S., Wigdor, E. M., Torene, R. I., et al. (2024) · Nature Genetics · doi:10.1038/s41588-024-01910-8 · Cited by 13
Self-citationVerboon, J. M., Decker, J. R., Nakamura, M., & Parkhurst, S. M. (2018) · Journal of Cell Science · doi:10.1242/jcs.211573 · Cited by 10
Conditional Deletion of Eaf1 Induces Murine Prostatic Intraepithelial Neoplasia in Mice
Pascal, L. E., Su, F., Wang, D., Ai, J., Song, Q., Wang, Y., O’Malley, K. J., Cross, B., Rigatti, L. H., Green, A. R., et al. (2019) · Neoplasia · doi:10.1016/j.neo.2019.05.005 · Cited by 10
Lin, J., Zheng, J., Zhang, H., Chen, J., Yu, Z., Chen, C., Xiong, Y., & Liu, T. (2018) · PubMed Central · Cited by 10
Reducing 14-3-3ζ expression influences adipocyte maturity and impairs function
Oppong, A. K., Diallo, K., Frayne, I. R., Rosiers, C. D., & Lim, G. E. (2020) · American Journal of Physiology-Endocrinology and Metabolism · doi:10.1152/ajpendo.00093.2020 · Cited by 10
Yu, X., & Xu, J. (2020) · Journal of Molecular Cell Biology · doi:10.1093/jmcb/mjaa024 · Cited by 10
Characterization of liver GSD IX γ2 pathophysiology in a novel Phkg2/ mouse model
Gibson, R. A., Lim, J., Choi, S. J., Flores, L. S., Clinton, L. K., Bali, D. S., Young, S. P., Asokan, A., Sun, B., & Kishnani, P. S. (2021) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2021.05.008 · Cited by 10
Peng, X., Feng, G., Zhang, Y., & Sun, Y. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms222111368 · Cited by 10
Falcone, S., Nicol, T., Blease, A., Randles, M. J., Angus, E. M., Page, A. M., Tam, F. W. K., Pusey, C. D., Lennon, R., & Potter, P. K. (2021) · Kidney International · doi:10.1016/j.kint.2021.10.031 · Cited by 10
Geyer, S. H., Maurer‐Gesek, B., Reissig, L. F., & Weninger, W. J. (2017) · Journal of Visualized Experiments · doi:10.3791/56071-v · Cited by 10
Self-citationIdentifying novel regulators of placental development using time-series transcriptome data
Vu, H. T. H., Kaur, H., Kies, K. R., Starks, R. R., & Tuteja, G. (2022) · Life Science Alliance · doi:10.26508/lsa.202201788 · Cited by 10
Orgil, B., Xu, F., Munkhsaikhan, U., Alberson, N. R., Bajpai, A. K., Johnson, J. N., Sun, Y., Towbin, J. A., Lu, L., & Purevjav, E. (2022) · Physiological Genomics · doi:10.1152/physiolgenomics.00120.2022 · Cited by 10
Homozygous DBF4 mutation as a cause of severe congenital neutropenia
Willemsen, M., Barber, J. S., Nieuwenhove, E. V., Staels, F., Gerbaux, M., Neumann, J., Prezzemolo, T., Pasciuto, E., Lagou, V., Boeckx, N., et al. (2023) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2023.02.016 · Cited by 12
Langer, B. E., & Hiller, M. (2018) · Nucleic Acids Research · doi:10.1093/nar/gky1200 · Cited by 9
The virtue of dependent failures in multi-site systems
Junqueira, F., & Marzullo, K. (2005) · Hot Topics in System Dependability · Cited by 10
Lilue, J., Doran, A., Fiddes, I. T., Abrudan, M. I., Armstrong, J. C., Bennett, R., Chow, W., Collins, J., Collins, S. C., Czechanski, A., et al. (2018) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/235838 · Cited by 10
Self-citationPerry, J. A., Gaynor, B. J., Mitchell, B. D., & O’Connell, J. R. (2021) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2021.05.02.442370 · Cited by 10
mRNA decapping factor Dcp1a is essential for embryonic growth in mice
Ibayashi, M., Aizawa, R., & Tsukamoto, S. (2021) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2021.03.117 · Cited by 9
Righetti, S., Allcock, R. J. N., Yaplito‐Lee, J., Adams, L., Ellaway, C., Jones, K., Selvanathan, A., Fletcher, J. M., Pitt, J. J., Kuilenburg, A. B. P., et al. (2022) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2022.07.011 · Cited by 9
Exosome complex components 1 and 2 are vital for early mammalian development
Srinivasan, S., He, X. D., Mirza, S., & Mager, J. (2023) · Gene Expression Patterns · doi:10.1016/j.gep.2023.119346 · Cited by 9
Morel, M., & Long, W. (2023) · Molecular Oncology · doi:10.1002/1878-0261.13554 · Cited by 9
Bajpai, A. K., Gu, Q., Orgil, B., Alberson, N. R., Towbin, J. A., Martinez, H. R., Lu, L., & Purevjav, E. (2023) · Genes · doi:10.3390/genes15010053 · Cited by 9
Lethal phenotypes in Mendelian disorders
Cacheiro, P., Lawson, S., den Veyver, I. B. V., Marengo, G., Zocche, D., Murray, S. A., Duyzend, M., Robinson, P. N., & Smedley, D. P. (2024) · Genetics in Medicine · doi:10.1016/j.gim.2024.101141 · Cited by 11
Self-citationComputational identification of disease models through cross-species phenotype comparison
Cacheiro, P., Pava, D., Parkinson, H., Vanzanten, M., Wilson, R. J., Güneş, O., & Smedley, D. P. (2024) · Disease Models & Mechanisms · doi:10.1242/dmm.050604 · Cited by 9
Self-citationPathological variants in nuclear genes causing mitochondrial complex III deficiency: An update
Čunátová, K., & Fernández‐Vizarra, E. (2024) · Journal of Inherited Metabolic Disease · doi:10.1002/jimd.12751 · Cited by 9
The identification of essential cellular genes is critical for validating drug targets
Xu, T., Wang, S., Ma, T., Dong, Y., Ashby, C. R., & Hao, G. (2024) · Drug Discovery Today · doi:10.1016/j.drudis.2024.104215 · Cited by 10
De novo variants in CDKL1 and CDKL2 are associated with neurodevelopmental symptoms
Bereshneh, A. H., Andrews, J. C., Eberl, D. F., Bademci, G., Borja, N. A., Bivona, S., Chung, W. K., Yamamoto, S., Wangler, M. F., McKee, S. A., et al. (2025) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2025.02.019 · Cited by 9
A map of blood regulatory variation in South Africans enables GWAS interpretation
Castel, S. E., Tluway, F. D., Emde, A., Smyth, N., Karim, M. A., Sengupta, D., Gray, O. A., Hendershott, M. C., von Baeyer, S. L., Burke, E. E., et al. (2025) · Nature Genetics · doi:10.1038/s41588-025-02223-0 · Cited by 10
Dorans, E., Jagadeesh, K. A., Dey, K. K., & Price, A. L. (2025) · Nature Genetics · doi:10.1038/s41588-025-02220-3 · Cited by 12
DNA Damage and Repair in Thyroid Physiology and Disease
Arczewska, K. D., Sys, D., Nilsen, H. L., & Piekiełko‐Witkowska, A. (2025) · Endocrine Reviews · doi:10.1210/endrev/bnaf035 · Cited by 9
Genetic Influence on Frequencies of Myeloid-Derived Cell Subpopulations in Mouse
Krayem, I., Sohrabi, Y., Javorková, E., Volkova, V., Strnad, H., Havelková, H., Vojtíšková, J., Aidarova, A., Holáň, V., Démant, P., et al. (2022) · Frontiers in Immunology · doi:10.3389/fimmu.2021.760881 · Cited by 9
FBXO38 Ubiquitin Ligase Controls Sertoli Cell Maturation
Dibus, N., Zobalová, E., Monleon, M. A. M., Kořínek, V., Filipp, D., Petrusová, J., Sedláček, R., Kašpárek, P., & C̆ermák, L. (2022) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2022.914053 · Cited by 9
Yap, P., Riley, L. G., Kakadia, P. M., Bohlander, S. K., Curran, B., Rahimi, M. J., Alburaiky, S., Hayes, I., Oppermann, H., Print, C. G., et al. (2023) · European Journal of Human Genetics · doi:10.1038/s41431-023-01484-9 · Cited by 9
Lewis, M. A., Schulte, J., Matthews, L. J., Vaden, K. I., Steves, C. J., Williams, F. M. K., Schulte, B. A., Dubno, J. R., & Steel, K. P. (2023) · PLoS Genetics · doi:10.1371/journal.pgen.1011058 · Cited by 9
Augmenting tomato functional genomics with a genome-wide induced genetic variation resource
Gupta, P., Dholaniya, P. S., Princy, K., Madhavan, A. S., Sreelakshmi, Y., & Sharma, R. P. (2024) · Frontiers in Plant Science · doi:10.3389/fpls.2023.1290937 · Cited by 8
Research advances of polycomb group proteins in regulating mammalian development
Li, Y., Mo, Y., Chen, C., He, J., & Guo, Z. (2024) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2024.1383200 · Cited by 9
Novel KIAA1109 variants affecting splicing in a Russian family with ALKURAYA‐KUČINSKAS syndrome
Filatova, A. Y., Freire, V. A., Lozier, E., Konovalov, F. A., Бессонова, Л. А., Iudina, E., Gnetetskaya, V., Kanivets, I. V., Korostelev, S. A., & Skoblov, M. Y. (2018) · Clinical Genetics · doi:10.1111/cge.13472 · Cited by 9
Kabir, M., Wenlock, S. C., Doig, A. J., & Hentges, K. E. (2019) · Scientific Reports · doi:10.1038/s41598-019-39894-9 · Cited by 9
Moore, B. A., Flenniken, A. M., Clary, D. A., Moshiri, A. S., Nutter, L. M. J., Berberovic, Z., Owen, C., Newbigging, S., Adissu, H. A., Eskandarian, M., et al. (2019) · Scientific Reports · doi:10.1038/s41598-019-47286-2 · Cited by 9
Self-citationRan, S., He, X., Jiang, Z., Liu, Y., Zhang, Y., Zhang, L., Gu, G., Pei, Y., Liu, B., Tian, Q., et al. (2020) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.1267 · Cited by 9
D’Annibale, O., Koppes, E., Alodaib, A. N., Kochersperger, C., Karunanidhi, A., Mohsen, A.-W. A., & Vockley, J. E. (2021) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2021.08.012 · Cited by 9
Muñoz‐Fuentes, V., Haselimashhadi, H., Santos, L., Westerberg, H., Parkinson, H., & Mason, J. (2021) · Mammalian Genome · doi:10.1007/s00335-021-09917-w · Cited by 9
Self-citationArtefacts in Volume Data Generated with High Resolution Episcopic Microscopy (HREM)
Reissig, L. F., Geyer, S. H., Rose, J., Prin, F., Wilson, R. J., Szumska, D., Galli, A., Tudor, C. L., White, J. K., Mohun, T. J., et al. (2021) · Biomedicines · doi:10.3390/biomedicines9111711 · Cited by 9
Self-citationMetabolomic and pharmacologic analyses of brain substances associated with sleep pressure in mice
Suzuki-Abe, H., Sonomura, K., Nakata, S., Miyanishi, K., Mahmoud, A. A., Hotta-Hirashima, N., Miyoshi, C., Sato, T., Funato, H., & Yanagisawa, M. (2021) · Neuroscience Research · doi:10.1016/j.neures.2021.11.008 · Cited by 9
Domingues, R. R., Wiltbank, M. C., & Hernandez, L. L. (2022) · Frontiers in Medicine · doi:10.3389/fmed.2022.848581 · Cited by 10
Zhong, Z., Wang, J., Han, Q., Lin, H., Luo, H., Guo, D., Jiang, Y., & Liu, A. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.969536 · Cited by 9
Knockout mice are an important tool for human monogenic heart disease studies
Cacheiro, P., Spielmann, N., Mashhadi, H. H., Fuchs, H., Gailus‐Durner, V., Smedley, D. P., & de Angelis, M. H. (2023) · Disease Models & Mechanisms · doi:10.1242/dmm.049770 · Cited by 10
Self-citationEssential genes: a cross-species perspective
Cacheiro, P., & Smedley, D. P. (2023) · Mammalian Genome · doi:10.1007/s00335-023-09984-1 · Cited by 10
Forward genetic approach for behavioral neuroscience using animal models
Funato, H. (2020) · Proceedings of the Japan Academy Series B · doi:10.2183/pjab.96.002 · Cited by 9
Zhou, K., Dichlberger, A., Ikonen, E., & Blom, T. (2020) · American Journal Of Pathology · doi:10.1016/j.ajpath.2020.07.003 · Cited by 9
Computational and Experimental Analysis of Genetic Variants
Prokop, J. W., Jdanov, V., Savage, L., Morris, M., Lamb, N. E., VanSickle, E., Stenger, C. L., Rajasekaran, S., & Bupp, C. P. (2022) · Comprehensive physiology · doi:10.1002/cphy.c210012 · Cited by 12
Thalmeier, D., Miller, G., Schneltzer, E., Hurt, A., de Angelis, M. H., Becker, L., Müller, C. L., & Maier, H. (2022) · BMC Neuroscience · doi:10.1186/s12868-022-00758-0 · Cited by 8
Genetic and Molecular Quality Control of Genetically Engineered Mice
Lintott, L. G., & Nutter, L. M. J. (2023) · Methods in molecular biology · doi:10.1007/978-1-0716-2990-1_3 · Cited by 8
Self-citationZhang, T., Xue, Y., Su, S., Altouma, V., Ho, K., Martindale, J. L., Lee, S., Shen, W., Park, A., Zhang, Y., et al. (2023) · Nucleic Acids Research · doi:10.1093/nar/gkad1122 · Cited by 8
Neddylation drives myofibrillogenesis in the developing heart
Littlejohn, R., Zambrano-Carrasco, J., Zou, J., Lu, Y., Liu, E., Kim, I., Jiao, K., Weintraub, N. L., Zhou, J., Li, J., et al. (2024) · The FASEB Journal · doi:10.1096/fj.202401380r · Cited by 8
Genetic architecture of plasma metabolome in 254,825 individuals
Qiang, Y., Wang, Y., He, X., Deng, Y., Ge, Y., Wu, B., You, J., Feng, J., Cheng, W., & Yu, J. (2025) · Nature Communications · doi:10.1038/s41467-025-62126-w · Cited by 10
Reid, C. A., Rollo, B., Petrou, S., & Berkovic, S. F. (2018) · Epilepsia · doi:10.1111/epi.14077 · Cited by 8
Li-Villarreal, N., Rasmussen, T. L., Christiansen, A. E., Dickinson, M. E., & Hsu, C. (2023) · Mammalian Genome · doi:10.1007/s00335-022-09976-7 · Cited by 8
Self-citationCheckpoint kinase 2 controls insulin secretion and glucose homeostasis
Chong, A. C. N., Vandana, J. J., Jeng, G., Li, G., Meng, Z., Duan, X., Zhang, T., Qiu, Y., Duran‐Struuck, R., Coker, K. E., et al. (2023) · Nature Chemical Biology · doi:10.1038/s41589-023-01466-4 · Cited by 10
Kafita, D., Nkhoma, P., Dzobo, K., & Sinkala, M. (2023) · PLoS ONE · doi:10.1371/journal.pone.0296029 · Cited by 7
Liu, C., & Shao, N. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms25063240 · Cited by 8
Kunisetty, B., Martin‐Giacalone, B. A., Zhao, X., Luna, P. N., Brooks, B. P., Hufnagel, R. B., Shaw, C. A., Rosenfeld, J. A., Agopian, A. J., Lupo, P. J., et al. (2024) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.65.3.25 · Cited by 8
Negative elongation factor is essential for endometrial function
Hewitt, S. C., Li, R., Adams, N. R., Winuthayanon, W., Hamilton, K. J., Donoghue, L. J., Lierz, S. L., Garcia, M., Lydon, J. P., DeMayo, F. J., et al. (2018) · The FASEB Journal · doi:10.1096/fj.201801752 · Cited by 8
Li, M., Yao, S., Duan, Y.-Y., Zhang, Y., Guo, Y., Niu, H., Dong, S., Qiu, Y., & Yang, T. (2019) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgz270 · Cited by 8
Loss of PHF6 leads to aberrant development of human neuron-like cells
Fliedner, A., Gregor, A., Ferrazzi, F., Ekici, A. B., Sticht, H., & Zweier, C. (2020) · Scientific Reports · doi:10.1038/s41598-020-75999-2 · Cited by 8
Mutations in the splicing regulator Prp31 lead to retinal degeneration in Drosophila
Hebbar, S., Lehmann, M., Behrens, S., Hälsig, C., Leng, W., Yuan, M., Winkler, S., & Knust, E. (2021) · Biology Open · doi:10.1242/bio.052332 · Cited by 7
Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13
Acharya, A., Raza, S. I., Anwar, M. Z., Bharadwaj, T., Liaqat, K., Khokhar, M. A. S., Everard, J., Nasır, A., Nickerson, D. A., Bamshad, M. J., et al. (2021) · Journal of Human Genetics · doi:10.1038/s10038-021-00922-0 · Cited by 8
Lin, G., Liang, Y., Wu, P., Chen, C.-K., Lai, Y., Jiang, T., Haung, Y., & Chuong, C. (2021) · Developmental Dynamics · doi:10.1002/dvdy.396 · Cited by 8
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
