OMIA:003037-9913 : Perinatal lethality, EGFR-related in Bos taurus (taurine cattle) |
Categories: Mortality / aging (incl. embryonic lethal) , Integument (skin) phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 131550 (gene)
Single-gene trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2026
Molecular basis: Floriot et al. (2026): "Genetic analysis identified a nonsense variant in the epidermal growth factor receptor (EGFR) gene, XP_002696936:p.Val876Ter, as likely responsible ... ."
Clinical features: Floriot et al. (2026): "Six cases of perinatal lethality associated with phenotypes consistent across cases, short and brush-haired appearance, alopecia and erythematous areas on the limbs and facial protuberances, excess skin all-over the body, have recently occurred in the "Blonde d'Aquitaine" cattle breed ... ."
Breed:
Blonde d'Aquitaine (Cattle) (VBO_0000151).
Breeds in which the phene or likely causal variants have been documented. If a likely causal variant has been documented, see variant-specific breed information in the variant table. (Breed information may be incomplete).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| EGFR | epidermal growth factor receptor | Bos taurus | 22 | NC_037349.1 (1121545..904065) | EGFR | Ensembl, NCBI gene |
Variants
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
| OMIA Variant ID | Breed(s) | Variant Phenotype | Gene | Allele | Variant Type | Variant Effect | Source of Genetic Variant | Pathogenicity Classification* | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1870 | Blonde d'Aquitaine (Cattle) | Perinatal lethality, EGFR-related | EGFR | substitution | nonsense (stop-gain) | Naturally occurring variant | Not currently evaluated | ARS-UCD1.2 | 22 | g.916239C>T | XP_002696936:p.(V876*) | 2026 | 41501727 |
* Variant pathogenicity for single gene diseases as evaluated by an expert panel of the International Society of Animal Genetics (ISAG) Animal Genetic Testing Standardization Standing Committee
Contact us
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Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2026). OMIA:003037-9913: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2026 | Floriot, S., Fritz, S., Herry, V., Beauvallet, C., Boussaha, M., Egidy, G., Duchesne, A., Vilotte, M., Cadiergues, M.C., Boichard, D., Schelcher, F., Vilotte, J.L. : |
| An autosomal recessive nonsense variant in the EGFR gene induces perinatal lethality in "Blonde d'Aquitaine" calves. BMC Vet Res , 2026. Pubmed reference: 41501727. DOI: 10.1186/s12917-025-05225-6. |
Edit History
- Created by Imke Tammen2 on 09 Jan 2026
- Changed by Imke Tammen2 on 09 Jan 2026