OMIA:003002-9913 : Auditory-pigmentary syndrome, GRID1-related in Bos taurus (taurine cattle) |
Categories: Pigmentation phene , Hearing / vestibular / ear phene , Growth / size / body region phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 610659 (gene)
Single-gene trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2025
Species-specific name: short stature–auditory depigmentation syndrome; coat colour white
Molecular basis: Jacinto et al. (2025) used "a trio-based whole-genome sequencing approach" to identify "a likely pathogenic missense variant in GRID1 (XP_024842694.1:p.Pro489His) [omia.variant:1831] in [a Simmental animal] with short stature-auditory depigmentation syndrome".
Clinical features: Jacinto et al. (2025) reported that the affected Simmental animal "had a predominantly white coat with isolated areas of residual pigmentation, proportionate short stature, brachygnathia, and reduced responsiveness to auditory stimuli".
Breed:
Simmental (Cattle) (VBO_0000380).
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 |
|---|---|---|---|---|---|---|
| GRID1 | glutamate ionotropic receptor delta type subunit 1 | Bos taurus | 28 | NC_037355.1 (41089777..40404330) | GRID1 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1831 | Simmental (Cattle) | Short stature–auditory depigmentation syndrome | GRID1 | substitution | missense | Naturally occurring variant | Not currently evaluated | ARS-UCD1.3 | 28 | NC_037355.1:g.40526902G>T | XM_024986926.1:c.1466C>A | XP_024842694.1:p.(P489H) | s719437442 | 2025 | 40913728 |
* 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. (2025). OMIA:003002-9913: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2025 | Jacinto, J.G.P., Leuenberger, T., Hauser, M., Häfliger, I.M., Seefried, F.R., Letko, A., Drögemüller, C. : |
| Rare phenotypes of white coat color in Simmental calves: genetic causes of syndromic forms of albinism and depigmentation. Mol Genet Genomics 300:91, 2025. Pubmed reference: 40913728. DOI: 10.1007/s00438-025-02290-2. |
Edit History
- Created by Imke Tammen2 on 09 Sep 2025
- Changed by Imke Tammen2 on 09 Sep 2025