OMIA:000213-9863 : Coat colour, white in Cervus nippon (sika deer)

In other species: domestic cat , franciscana , Bengal tiger , water buffalo

Categories: Pigmentation phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 600201 (gene) , 606202 (gene) , 184745 (gene)

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.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
KITLG Cervus nippon - no genomic information (-..-) KITLG Ensembl

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:000213-9863: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

Reference

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.

Edit History


  • Created by Imke Tammen2 on 29 May 2023
  • Changed by Imke Tammen2 on 29 May 2023