In other species: cattle

Possibly relevant human trait(s) and/or gene(s) (MIM number): 103500

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2019

Markers: Markakis et al. (2017) reported that "Similar to other described species, in the American mink too, the MITF gene seems to be associated with lack of pigment and deafness, although no significant mutation has been identified in the gene".

Molecular basis: Manakhov et al. (2019) "identified single nucleotide variation (GL896899.1:18635719 G/A (MITF-M C.33 + 1 G > A), hereinafter referred to as MITF^h) at the splice donor site of the 1 M exon in melanocyte-specific MITF isoform (MITF-M) . . . [that] potentially leads to a stop codon after position 51 of the first MITF-M intron, resulting in a truncated 29 amino acid product, that contains only the first 11 amino acid of MITF-M. The mutation was homozygous in all tested Hedlund white minks from the two unrelated test populations, but not in minks with other coat colour phenotypes".

Clinical features: Markakis et al. (2017): "The skin of the newborn Hedlund kits is pale pink, but soon after birth is covered completely with white hair. The Hedlund phenotype in American mink appears to be controlled by a simple incompletely recessive locus and is associated with deafness in homozygotic status, similar to MITF variants in other species."

Associated gene: