In other species: common canary , Japanese quail

Categories: Pigmentation phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 609227 (trait) , 606526 (gene)

Links to relevant human diseases in MONDO:

• MONDO:0012220: Griscelli syndrome type 3

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Disease-related: no

Key variant known: yes

Year key variant first reported: 2008

Cross-species summary: Known as lavender feather colour

Species-specific symbol: LAV*L

Species-specific description: Black pigment is diluted to slaty blue or light grey; red pigment is diluted to beige or buff

History: This autosomal-recessive feather-colour mutant was first documented by Brumbaugh et al. (1972).

Molecular basis: By some very innovative use of comparative biology, Vaez et al. (2008) found a causative non-synonymous (missense) SNP (c.103C>T, leading to R35W) in the MLPH gene, on the basis of the lavender phenotype being similar to dilute coat-colour phenotypes in a range of mammals. This is an excellent example of how the power of comparative genomics can be extended well beyond genera, families, orders, reaching as far as different classes. Xu et al. (2016): "A single nucleotide polymorphism (C.1909A>G) was identified within the melanophilin (MLPH) gene and was significantly associated with the gray dilution phenotype. Our findings suggest that the E and FM alleles act together to cause the development of the "five-black" phenotype (black feather, comb, skin, shank, and beak), whereas the MLPH mutation results in defective melanosome transport, leading to the development of the "five-gray" phenotype" in Anyi tile-like gray chickens.
Lee et al. (2022) "injected the adenovirus containing the CRISPR-Cas9 system with the guide RNA (gRNA) targeting the melanophilin (MLPH) gene, termed Adeno-MLPH ... into chicken ... and confirmed genome editing in their offspring."

Genetic engineering: Yes - in addition to the occurrence of natural variants, variants have been created artificially, e.g. by genetic engineering or gene editing
Have human generated variants been created, e.g. through genetic engineering and gene editing

Breed: Anyi gray chicken, China (Chicken) (VBO_0006654).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene: