OMIA:002287-9823 : Hypopigmentation and deafness in Sus scrofa (pig)
Categories: Pigmentation phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2020
Molecular basis: Xu et al. (2020) reported a KIT variant "(c.2418T>A, p.Asp806Glu)" in a "pig pedigree which presented congenital bilateral severe sensorineural hearing loss and hypopigmentation", resulting from ENU mutagenesis.
Have human generated variants been created, e.g. through genetic engineering and gene editing
Pathology: Xu et al. (2020): "Histological analysis showed nearly normal structures of the organ of Corti, stria vascularis (SV) and spiral neuron ganglions at E85. Scanning electron microscopy (SEM) exhibited that hair cells started to degenerate at E100, and totally gone at P1. Transmission electron microscope (TEM) showed disorganization of SV and disappearance of intermediate cells. The absence of endocochlear potentials also demonstrated the dysfunction of stria. Our study demonstrated that KIT mutation (c.2418T>A, p.Asp806Glu) interrupted the development of melanocytes in cochlea, which led to SV malformation and dysfunction, resulting in degeneration of hair cells and finally hearing loss."
Bama Xiang Zhu, China (Pig) (VBO_0012741).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|KIT||v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog||Sus scrofa||8||NC_010450.4 (41402334..41492306)||KIT||Homologene, Ensembl , NCBI gene|
By default, variants are sorted chronologically by year of publication, to provide a historical perspective.
Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending
order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column
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|
|1248||Bama Xiang Zhu, China (Pig)||Hypopigmentation (piebald) and deafness||KIT||missense||Naturally occurring variant||Sscrofa11.1||8||g.41485957T>A||c.2418T>A||p.(D806E)||ENU mutagenesis was used to create these pigs, NM_001044525.1; c.2418T>A; NP_001037990.1; p.(D806E) (Xu et al., 2020)||2020||33042408|
Cite this entry
|2020||Xu, C., Ren, W., Zhang, Y., Zheng, F., Zhao, H., Shang, H., Guo, W., Yang, S. :|
|KIT gene mutation causes deafness and hypopigmentation in Bama miniature pigs. Am J Transl Res 12:5095-5107, 2020. Pubmed reference: 33042408.|
- Created by Frank Nicholas on 21 Oct 2020
- Changed by Frank Nicholas on 21 Oct 2020