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Spontaneous Allele Detail
Symbol: Tyrc-h
Name: tyrosinase; himalayan
MGI ID: MGI:1855979
Gene: Tyr  Location: Chr7:87427405-87493411 bp, - strand  Genetic Position: Chr7, 49.01 cM
Tyrc-h/ Tyrc-h

Show the 1 phenotype image(s) involving this allele.

Strain of Origin:  (DBA/2 x AKR/J)F1
Allele Type:    Spontaneous
Mutation:    Single point mutation
Mutation detailsThe mutation in the himalayan allele was found to be an A to G point mutation at nucleotide 1259 that results in an amino acid change at position 420 from histidine to arginine. (J:9824)
Inheritance:    Semidominant
View phenotypes for all genotypes (concatenated display).
Disease models
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Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Tyr Mutation:  346 strains or lines available
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).

Original:  J:24726 Green MC, New mutant: Himalayan, symbol c. Mouse News Lett. 1959;21:46
All:  12 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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