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 (trait) , 242500 (trait) , 607800 (gene)

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 miniature.

Associated gene:

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

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 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 miniature 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

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 11:1029-1041, 2019. Pubmed reference: 30925591. DOI: 10.1093/jmcb/mjz021.

Edit History


  • Created by Frank Nicholas on 03 Feb 2020
  • Changed by Imke Tammen2 on 04 Nov 2021