OMIA:002248-9986 : Coat colour, dilution, generic in Oryctolagus cuniculus (rabbit)

In other species: horse

Categories: Pigmentation phene

Links to MONDO diseases: No links.

Mendelian trait/disorder: unknown

Considered a defect: no

Species-specific description: Chen et al. (2021): "American Chinchilla rabbit colors include light, medium, and dark shades. Light and medium Chinchilla rabbits exhibit a matte dilution relative to dark. ... Two exon skipping and a frameshift mutation within the melanophilin (MLPH) gene are associated with coat color dilution in rabbits (Lehner et al., 2013; Fontanesi et al., 2014) [see OMIA 000031-9986 : Coat colour, dilution, MLPH-related in Oryctolagus cuniculus for references]. However, these previously reported mutations associated with coat color dilution in rabbits were not identified in the Chinchilla populations investigated here (Li et al., 2020). ... We compared genome-wide DNA methylation profiles in Rex rabbit hair follicles in a Chinchilla group (Ch) and a diluted Chinchilla group (DCh) through whole-genome bisulfite sequencing (WGBS)."

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2021). OMIA:002248-9986: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

References

Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2023 Zhang, K., Wang, G., Wang, L., Wen, B., Fu, X., Liu, N., Yu, Z., Jian, W., Guo, X., Liu, H., Chen, S.Y. :
A genome-wide association study of coat color in Chinese Rex rabbits. Front Vet Sci 10:1184764, 2023. Pubmed reference: 37655262. DOI: 10.3389/fvets.2023.1184764.
2020 Chen, Y., Hu, S., Liu, M., Zhao, B., Yang, N., Li, J., Chen, Q., Zhou, J., Bao, G., Wu, X. :
Analysis of Genome DNA Methylation at Inherited Coat Color Dilutions of Rex Rabbits. Front Genet 11:603528, 2020. Pubmed reference: 33552123. DOI: 10.3389/fgene.2020.603528.
Li, J., Chen, Y., Liu, M., Chen, Q., Wu, X. :
Association of melanophilin (MLPH) gene polymorphism with coat colour in Rex rabbits World Rabbit Sci 28:29, 2020. DOI: doi: 10.4995/wrs.2020.12082.

Edit History


  • Created by Imke Tammen2 on 09 Apr 2021
  • Changed by Imke Tammen2 on 09 Apr 2021