OMIA 002238-9823 : Ichthyosis, ABCA12-related in Sus scrofa

In other species: cattle

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 601277 , 242500

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: no

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."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
ABCA12 Sus scrofa - no genomic information (-..-) ABCA12 Ensembl

Reference


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 :, 2019. Pubmed reference: 30925591. DOI: 10.1093/jmcb/mjz021.

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  • Created by Frank Nicholas on 03 Feb 2020