OMIA:002238-9685 : Ichthyosis, ABCA12-related in Felis catus (domestic cat) |
In other species: pig , taurine cattle
Categories: Integument (skin) phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 601277 (trait) , 242500 (trait) , 607800 (gene)
Links to relevant human diseases in MONDO:
Single-gene trait/disorder: yes
Mode of inheritance: Probably autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2025
Molecular basis: Blake et al. (2025) reported two random bred littermates with ichthyosis fetalis: "Genetic analysis identified a homozygous one base pair deletion in ABCA12 [XM_019838638.2:c.6926delC], resulting in a frameshift and predicted loss of function of the encoded protein [ABCA12:p.Pro2201fsTer9]. Genotyping of 140 unrelated cats revealed that all were homozygous for the wild-type allele."
Breed:
Domestic Shorthair (Cat) (VBO_0100119).
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 |
|---|---|---|---|---|---|---|
| ABCA12 | ATP binding cassette subfamily A member 12 | Felis catus | C1 | NC_058375.1 (199730232..199443829) | ABCA12 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1861 | Domestic Shorthair (Cat) | Ichthyosis, ABCA12-related | ABCA12 | deletion, small (<=20) | frameshift | Not currently evaluated | F.catus_Fca126_mat1.0 | C1 | NC_058375.1:g.199458885del | XM_019838638.2:c.6600del | XP_019694197.1:p.(T2201Pfs*9) | published as XM_019838638.2:c.6926delC; ABCA12:p.Pro2201fsTer9 | 2025 | 41395671 |
* 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:002238-9685: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2025 | Blake, J.M., Swan, M.P., Ekenstedt, K.J. : |
| ABCA12 frameshift deletion in domestic cats with ichthyosis fetalis. Vet Dermatol , 2025. Pubmed reference: 41395671. DOI: 10.1111/vde.70043. |
Edit History
- Created by Imke Tammen2 on 05 Jan 2026
- Changed by Imke Tammen2 on 05 Jan 2026