B6.TF-Slc45a2^uw-d/J

Stock number: 002550
Product name: underwhite dense
Research areas: Dermatology Research

Description

These mice carry the spontaneous Slc45a2^uw-d mutation and are characterized by a reduction of pigmentation in both eye and coat color.

Detailed description

Underwhite dense arose as a spontaneous mutation in the TF/Le inbred strain in 1992 and is carried as congenic in this strain with a C57BL/6J genetic background. The ventrum of mutants appear slightly lighter than the dorsum. Eyes are light at birth, but darken with age. The adult eye is deep, dark ruby, although it may appear black to an untrained observer. The similarity to ruby eye (Hps6^ru), ruby eye 2 (Hps5^ru2 ), and brown (Tyrp1^b ) suggests that the underwhite gene may have effects on the shape and color of pigment granules similar to those produced by the ruby eye or brown mutations.

Allele

Symbol: Slc45a2^uw-d
Name: underwhite dense
MGI accession ID: MGI:1857540
Generation method: Spontaneous
Marker symbol: Slc45a2
Marker name: solute carrier family 45, member 2
Marker synonyms: 1A1; AIM1; Aim-1; blanc-sale; bls; Dbr; dominant brown; MATP; OCA4; SHEP5
Chromosome: 15
Strain of origin: TF/Le
Molecular note: Molecular analysis reveals a T-to-C transition in codon 435, resulting in a serine to proline substitution (p.S435P) within transmembrane domain 10 of the protein.