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Allele : Tyr<c-h> tyrosinase; himalayan

Primary Identifier  MGI:1855979 Allele Type  Spontaneous
Gene  Tyr Inheritance Mode  Semidominant
Strain of Origin  (DBA/2 x AKR/J)F1 Is Recombinase  false
Is Wild Type  false
description  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).
molecularNote  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).
  • mutations:
  • Single point mutation
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

6 Carried By

0 Driven By

12 Publication categories