OMIA:002238-9823 : Ichthyosis, ABCA12-related in Sus scrofa
In other species: taurine cattle
Categories: Integument (skin) phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2019
Species-specific description: The disorder created by Wang et al. (2019) represents a genetically-modified organism (GMO).
Molecular basis: Wang et al. (2019) "generated an ethylnitrosourea mutagenic HI pig model (named Z9), which carries a novel deep intronic mutation IVS49-727 A>G in the ABCA12 gene, resulting in abnormal mRNA splicing and truncated protein production. Z9 pigs exhibit significant clinical symptom as human patients with HI."
Breed: Bama Xiang Zhu, China (Pig) (VBO_0012741).
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|ABCA12||Sus scrofa||-||no genomic information (-..-)||ABCA12||Ensembl|
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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||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|1379||Bama Xiang Zhu, China (Pig)||Ichthyosis||ABCA12||splicing||Chemical mutagenesis (ENU)||Sscrofa11.1||15||g.117250799T>C||Intronic mutation IVS49-727 A>G results in splicing alteration resulting in a 132-nt insertion and a premature stop codon (Wang et al., 2019)||2019||30925591|
Cite this entry
|2019||Wang, X., Cao, C., Li, Y., Hai, T., Jia, Q., Zhang, Y., Zheng, Q., Yao, J., Qin, G., Zhang, H., Song, R., Wang, Y., Shui, G., Lam, S.M., Liu, Z., Wei, H., Meng, A., Zhou, Q., Zhao, J. :|
|A harlequin ichthyosis pig model with a novel ABCA12 mutation can be rescued by acitretin treatment. J Mol Cell Biol 11:1029-1041, 2019. Pubmed reference: 30925591 . DOI: 10.1093/jmcb/mjz021.|
- Created by Frank Nicholas on 03 Feb 2020
- Changed by Imke Tammen2 on 04 Nov 2021