OMIA:000213-9863 : Coat colour, white in Cervus nippon
Categories: Pigmentation phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: no
Key variant known: yes
Year key variant first reported: 2023
Molecular basis: Chen et al. (2023) report analysis of whole genome sequencing data of a white sika deer and propose "a 10.099 kb fragment deletion of the SCF gene (stem cell factor)" [synonym of KITLG] as likely causal variant. The white sika deer was homozygous for the deletion and three related animals with unusual white patches in their faces were heterozygous for the variant.
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|KITLG||Cervus nippon||-||no genomic information (-..-)||KITLG||Ensembl|
Cite this entry
|2023||Chen, X., Dong, S., Liu, X., Ding, N., Xing, X. :|
|Phenotype of white sika deer due to SCF gene structural variation. Genes (Basel) 14:, 2023. Pubmed reference: 37239395 . DOI: 10.3390/genes14051035.|
- Changed by Imke Tammen2 on 29 May 2023
- Created by Imke Tammen2 on 29 May 2023