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
Disease-related: 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) 14:1035, 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