Mouse Tbx3 Mutants Suggest Novel Molecular Mechanisms for Ulnar-Mammary Syndrome
Open accessAbstract
The transcription factor TBX3 plays critical roles in development and TBX3 mutations in humans cause Ulnar-mammary syndrome. Efforts to understand how altered TBX3 dosage and function disrupt the development of numerous structures have been hampered by embryonic lethality of mice bearing presumed null alleles. We generated a novel conditional null allele of Tbx3: after Cre-mediated recombination, no mRNA or protein is detectable. In contrast, a putative null allele in which exons 1-3 are deleted produces a truncated protein that is abnormally located in the cytoplasm. Heterozygotes and homozygotes for this allele have different phenotypes than their counterparts bearing a true null allele. Our observations with these alleles in mice, and the different types of TBX3 mutations observed in human ulnar-mammary syndrome, suggest that not all mutations observed in humans generate functionally null alleles. The possibility that mechanisms in addition to TBX3 haploinsufficiency may cause UMS or other malformations merits investigation in the human UMS population.
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Mutations in the human TBX3 and TBX5 genes cause ulnar-mammary syndrome and Holt-Oram syndrome, respectively.
“Mutations in the human TBX3 and TBX5 genes cause ulnar-mammary syndrome (UMS, OMIM 181450) and Holt-Oram syndrome (HOS, OMIM 142900), respectively.”
From The oncoprotein TBX3 is controlling severity in experimental arthritis (2019) · cites this paper as [22]
The Introduction states that people with TBX3 mutations have ulnar-mammary syndrome, and the Abstract says TBX3 mutations cause it. The paper’s References link TBX5 with Holt-Oram syndrome, but no passage in our copy states that human TBX5 mutations cause the syndrome. Page numbers are unavailable in our copy. (LLM, conf=0.88)
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Self-citationThe Roles of T-Box Genes in Vertebrate Limb Development.
Sheeba, C., & Logan, M. (2017) · Current Topics in Developmental Biology · doi:10.1016/bs.ctdb.2016.08.009 · Cited by 54 · see citing works
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“However, homozygous deletion of Tbx3 in mice leadsto limb bone defects that largely phenocopy individuals with UMS, although the resulting embryonic lethality limited analysis of the limb phenotype (Davenport et al., 2003; Frank et al., 2013).”
InfluentialSelf-citationTBX3 acts as tissue-specific component of the Wnt/β-catenin transcriptional complex
Zimmerli, D., Borrelli, C., Jauregi-Miguel, A., Söderholm, S., Brütsch, S., Doumpas, N., Reichmuth, J., Murphy-Seiler, F., Aguet, M., Basler, K., et al. (2020) · eLife · doi:10.7554/elife.58123 · Cited by 47 · see citing works
“Of note, TBX3 plays a fundamental role in the development of this structure (Frank et al., 2013).”
BackgroundKaiser, M., Wojahn, I., Rudat, C., Lüdtke, T. H., Christoffels, V., Moon, A., Kispert, A., & Trowe, M.-O. (2021) · Development · doi:10.1242/dev.195651 · Cited by 42 · see citing works
“, 2010) or Tbx3 (Tbx3, synonym Tbx3) (Frank et al., 2013), the double fluorescent Cre reporter line Gt(ROSA)26Sor (synonym R26) (Muzumdar et al.”
BackgroundSelf-citationTBX3 Regulates Splicing In Vivo: A Novel Molecular Mechanism for Ulnar-Mammary Syndrome
P., P. K., Franklin, S., Emechebe, U., Hu, H., Moore, B., Lehman, C. W., Yandell, M., & Moon, A. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004247 · Cited by 41 · see citing works
“We employed unbiased proteomic screens using a custom polyclonal antibody generated against a peptide from the Cterminus of TBX3 [21].”
BackgroundMethodSelf-citationAydoğdu, N., Rudat, C., Trowe, M.-O., Kaiser, M., Lüdtke, T. H., Taketo, M. M., Christoffels, V. M., Moon, A., & Kispert, A. (2018) · Development · doi:10.1242/dev.171827 · Cited by 41 · see citing works
“, 2010), Tbx3 (Tbx3; synonym: Tbx3) (Frank et al., 2013), β-catenin (Ctnnb1; synonym: Ctnnb1) (Brault et al.”
Self-citationEmechebe, U., Kumar P, P., Rozenberg, J. M., Moore, B., Firment, A., Mirshahi, T., & Moon, A. M. (2016) · eLife · doi:10.7554/elife.07897 · Cited by 36 · see citing works
Self-citationWnt signaling regulates hepatocyte cell division by a transcriptional repressor cascade
Jin, Y., Anbarchian, T., Wu, P., Sarkar, A., Fish, M., Peng, W. C., & Nusse, R. (2022) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2203849119 · Cited by 26 · see citing works
“Tbx3 mice were a gift from Anne Moon (Geisinger Clinic, Danville, PA) (58).”
MethodZuniga, A., & Zeller, R. (2020) · Current Topics in Developmental Biology · doi:10.1016/bs.ctdb.2020.02.005 · Cited by 26 · see citing works
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“In addition, TBX3 (T-box transcription factor 3), an important regulator of muscle and its accessory tissues, exerted an instrumental role in muscle and bone development, and mutations in humans led to Ulnar-mammary syndrome [35].”
BackgroundLápez, S. H., Avetisyan, M., Wright, C. M., Mesbah, K., Kelly, R., Moon, A., & Heuckeroth, R. (2018) · Developmental Biology · doi:10.1016/j.ydbio.2018.09.017 · Cited by 16 · see citing works
“The Tbx3 floxed (Tbx3 fl/fl) conditional allele was generated as described (Frank et al., 2013).”
BackgroundMethodInfluentialSelf-citationThe oncoprotein TBX3 is controlling severity in experimental arthritis
Sardar, S., Kerr, A., Vaartjes, D., Moltved, E. R., Karosiene, E., Gupta, R., & Andersson, Å. (2019) · Arthritis Research & Therapy · doi:10.1186/s13075-018-1797-3 · Cited by 13 · see citing works
“Both syndromes cause defects in limb development [16, 22], which asserts their link to bone pathways recently recognized to interact with immune pathways [23].”
BackgroundThe c-Myc/AKT1/TBX3 Axis Is Important to Target in the Treatment of Embryonal Rhabdomyosarcoma
Sims, D., Maranyane, H. M., Damerell, V., Govender, D., Isaacs, A. W., Peres, J., & Prince, S. (2020) · Cancers · doi:10.3390/cancers12020501 · Cited by 13 · see citing works
“TBX3 is critical for the formation of, amongst other structures, the heart, mammary glands and the musculoskeletal system of the limbs, and, when mutated, causes the ulnar mammary syndrome [12,17,18].”
BackgroundGenetic and functional analysis of the TBX3 gene promoter in indirect inguinal hernia
Zhao, Z., Tian, W., Wang, L., Wang, H., Qin, X., Xing, Q., Pang, S., & Yan, B. (2014) · Gene · doi:10.1016/j.gene.2014.10.031 · Cited by 14 · see citing works
TBX3 acts as tissue-specific component of the Wnt/β-catenin enhanceosome
Zimmerli, D., Borrelli, C., Jauregi-Miguel, A., Söderholm, S., Brütsch, S. M., Doumpas, N., Reichmuth, J., Murphy-Seiler, F., Aguet, M., Basler, K., et al. (2020) · bioRxiv · doi:10.1101/2020.04.22.053561 · Cited by 10
“TBX3 appeared as the most interesting candidate, since the malformations induced by Bcl9/9l loss-of-function are strikingly similar to those induced by Tbx3 loss (Frank et al., 2013).”
BackgroundSingle‐cell profiling of MC1R ‐inhibited melanocytes
Berns, H. M., Watkins‐Chow, D. E., Lu, S., Louphrasitthiphol, P., Zhang, T., Brown, K. M., Moura‐Alves, P., Goding, C. R., & Pavan, W. J. (2023) · Pigment Cell & Melanoma Research · doi:10.1111/pcmr.13141 · Cited by 9 · see citing works
“…multiple tissue/cell types, including heart (Mesbah et al., 2012; Mohan et al., 2020; Singh et al., 2012), lungs (Lüdtke et al., 2016), limbs (Frank et al., 2013; Sheeba & Logan, 2017), inner ear (Kaiser et al., 2021), and neural crest (Lopez et al., 2018; Mesbah et al., 2012), and (6) is…”
BackgroundSoussi, G., Girdziusaite, A., Jhanwar, S., Palacio, V., Notaro, M., Sheth, R., Zeller, R., & Zuniga, A. (2024) · Development · doi:10.1242/dev.202722 · Cited by 6 · see citing works
“In addition to the Tbx3 Δ Venus null allele (Kunasegaran et al., 2014), the Prrx1-Cre strain (Logan et al., 2002) was used to conditionally inactivate the floxed Tbx3 (Frank et al., 2013) and Hand2 (Galli et al., 2010) alleles in the mouse forelimb bud mesenchyme.”
BackgroundMethodClinical and Genetic Characteristics of a Cohort with Distal Vaginal Atresia
Kang, J., Zhou, Q., Chen, N., Liu, Z.-Z., Zhang, Y., Sun, J.-H., Ma, C., Chen, F., Ma, Y., Wang, L., et al. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms232112853 · Cited by 6 · see citing works
Complex functional redundancy of Tbx2 and Tbx3 in mouse limb development
Lopatka, A., & Moon, A. (2022) · Developmental Dynamics · doi:10.1002/dvdy.484 · Cited by 6 · see citing works
“In the mouse forelimb, loss of Tbx3 affects the autopod (duplication of digit 1 and loss of digit 5), the zeugopod (reduction or loss of the ulna) and stylopod (loss of the deltoid tuberosity); there are also variable scapular defects.(12,13) Tbx3 has also been shown to regulate the development of a subset of limb mus…”
BackgroundSelf-citationHan, B., Zheng, Z., Ren, J., Qiu, W., & Li, X. (2019) · Clinical Rheumatology · doi:10.1007/s10067-019-04700-4 · Cited by 10 · see citing works
“Both syndromes cause defects in limb development [38, 43], which asserts their link to bone pathways recently recognized to interact with immune pathways [44].”
BackgroundTBX3 and EFNA4 Variant in a Family with Ulnar-Mammary Syndrome and Sagittal Craniosynostosis
Tung, M. L., Chandra, B., Kotlarek, J., Melo, M., Phillippi, E. S., Justice, C. M., Musolf, A. M., Boyadijev, S. A., Romitti, P. A., Darbro, B. W., et al. (2022) · Genes · doi:10.3390/genes13091649 · Cited by 5 · see citing works
“as nonsense-mediated mRNA decay [8] and dominant negative effects [5,9], have been proposed.”
BackgroundRecent Advances in Vaginal Atresia: A Literature Review
Lin, X.-J., Kang, J., & Zhu, L. (2025) · Biomedicines · doi:10.3390/biomedicines13010128 · Cited by 3
Loss of Tbx3 in mouse eye causes retinal angiogenesis defects reminiscent of human disease
Derbyshire, M., Akula, S., Wong, A., Rawlins, K., Voura, E., Brunken, W., Zuber, M., Fuhrmann, S., Moon, A., & Viczian, A. (2022) · bioRxiv · doi:10.1101/2022.04.20.488944 · Cited by 3
Self-citationJin, Y., Anbarchian, T., Wu, P., Sarkar, A., Fish, M., & Nusse, R. (2021) · doi:10.1101/2021.10.15.464616 · Cited by 2 · see citing works
“Tbx3 f/f mice were a gift from Dr. Anne Moon (Frank et al. 2013).”
MethodLoss of Tbx3 in Mouse Eye Causes Retinal Angiogenesis Defects Reminiscent of Human Disease
Derbyshire, M., Akula, S., Wong, A., Rawlins, K., Voura, E., Brunken, W., Zuber, M., Fuhrmann, S., Moon, A., & Viczian, A. (2023) · Investigative Ophthalmology and Visual Science · doi:10.1167/iovs.64.5.1 · Cited by 1 · see citing works
“To investigate the effect of Tbx3 loss of function on retinal development, we crossed mice bearing the Tbx3 conditional allele 20 with a Cre driver, BAC-Dkk3-Cre , that functions in retinal progenitors and astrocytes but not endothelial cells.”
Self-citationHan, B., Wang, Y.-X., Zhao, J., Lan, Q., Zhang, J., Meng, X.-X., Jin, J., Bai, M., & Zhang, Z. (2022) · Medicine · doi:10.1097/md.0000000000030046 · Cited by 1 · see citing works
Dey, C., Raina, K., Thool, M., Adhikari, P., Haridhasapavalan, K. K., Sundaravadivelu, P. K., Venkatesan, V., Gogoi, R., Selvaraju, S., & Thummer, R. P. (2021) · Elsevier eBooks · doi:10.1016/b978-0-323-90059-1.00007-5 · Cited by 5 · see citing works
Otx2 directly regulates tbx3 expression during early eye formation.
Ribeiro-Silva, J., Wong, K. A., & Viczian, A. (2026) · Experimental Eye Research · doi:10.1016/j.exer.2026.111285
- Authors
- Frank, D. U., Emechebe, U., Thomas, K. R., & Moon, A. M.
- Affiliations
- University of Utah (US)
- Corresponding author
- Moon, Anne M.
- Venue
- PLoS ONE
- Publisher
- Public Library of Science (PLoS)
- Published
- 2013-07-02
- Volume
- 8
- Issue
- 7
- Pages
- e67841
- ISSN
- 1932-6203 (ISSN-L)
- PMC
- PMC3699485
- OpenAlex
- W2084647989
- Cited by
- 39
- References
- 21
- Citations by year
- 2026: 1 · 2025: 1 · 2024: 2 · 2023: 4 · 2022: 4 · 2021: 3 · 2020: 5 · 2019: 5 · 2018: 2 · 2016: 4 · 2015: 5 · 2014: 3
- FWCI
- 3.08
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- PLoS ONE (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
- Funders
- March of Dimes Foundation
- National Institutes of Health
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD046767, K12HD047349)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Developmental Biology › Congenital limb and hand anomalies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Developmental Biology and Gene Regulation
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Congenital heart defects research
- Keywords
- TBX3, ulnar-mammary syndrome, truncated protein, haploinsufficiency, mouse mutants, transcription factor dosage, developmental malformations
- MeSH terms
- Abnormalities, Multiple, Animals, Breast Diseases, Female, Genotype, Heart, Hindlimb, Humans, Immunohistochemistry, Male, Mice, Inbred Strains, Mutation, Myocardium, Ulna, Mice, Knockout, Gene Expression Regulation, Developmental, Reverse Transcriptase Polymerase Chain Reaction, T-Box Domain Proteins, Mice, Mice, 129 Strain
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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 ›
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