Categories: Pigmentation phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 606526 (gene) , 609227 (trait)

Links to MONDO diseases:

• MONDO:0012220: Griscelli syndrome type 3

Mendelian trait/disorder: yes

Mode of inheritance: Recessive

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2023

Species-specific name: Ghost; Hypo; Orange Ghost

Inheritance: Lederer et al. (2023): "Ghost phenotype is recessive"

Molecular basis: Lederer et al. (2023) "... amplified and sequenced the coding regions and adjacent splice sites of [the functional candidate gene] MLPH in one animal described by its owner as Ghost and one animal having normal coloration (henceforth ‘wildtype’). ... We observed that the Ghost animal was homozygous for a 5-bp deletion in the eighth coding region of MLPH (OR035642:c.4919_4923del ... ). ... To test whether the 5-bp deletion in MLPH was associated with the Ghost phenotype in a broader population of animals, we genotyped ... 50 animals described by their owners as Ghost and 60 animals as described as Non-Ghost. ... We observed that all animals described as Ghost were homozygous for the 5-bp deletion ... . Non-Ghost animals, by contrast, did not carry the deletion (57 animals) or were heterozygous for it (three animals) .... These data show that homozygosity for the 5-bp deletion in MLPH is perfectly associated with the Ghost phenotype."

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

Clinical features: Lederer et al. (2023): "Ghost animals have lighter brown-to-black coloration compared to wildtype animals, and their shed skin is largely devoid of pigment ... . Ghost animals are healthy and show no abnormalities outside pigmentation."

Associated gene: