B6.Cg-Tyr^c-h/J

Stock number: 000104
Research areas: Dermatology Research, Developmental Biology Research, Mouse/Human Gene Homologs

Development

Himalayan, an allele at the tryosonase locus, arose spontaneously in the offspring of a cross between a DBA/2J male and an AKR/J female at The Jackson Laboratory in 1958. An affected male was backcrosses to an AKR/J female and the Tyr^c-h/Tyr^c carriers were mated to a C57BL/10Gn. Pairs were mated to produce the Tyr^c-h/Tyr^c-h mouse. The mutation was backcrossed onto strain C57BL/6J and was cryopreserved in 1987 by mating B6.Cg-Tyr^c-h homozygous males at N36F1 to C57BL/6J females.

Allele

Symbol: Tyr^c-h
Name: himalayan
MGI accession ID: MGI:1855979
Generation method: Spontaneous
Marker symbol: Tyr
Marker name: tyrosinase
Marker synonyms: ATN; CMM8; Oca1; OCA1A; OCAIA; SHEP3; skc35
Chromosome: 7
Strain of origin: (DBA/2 x AKR/J)F1
Molecular note: The mutation in the himalayan allele was found to be an A-to-G point mutation at coding nucleotide 1259 that results in an amino acid change at position 420 from histidine to arginine (p.H420R).
General note: Melanin granules of the retina are indistinguishable from those of chinchilla or of wild-type homozygotes (J:5001). Pigment synthesis in himalayan mice is temperature-sensitive; pigment develops in growing hairs of mice housed at 15oC but not in those housed at 30oC (J:6275). In explanation of this effect, it has been shown that tyrosinase in these mice is heat-labile (J:12173), being maximally active at well below body temperature. Tyrosinase of Tyrch homozygotes is strongly bound by an inhibitor at 37oC but not at lower temperatures (J:6508).