Tyr^c-h
Spontaneous Allele Detail

Summary

• Symbol: Tyr^c-h
• Name: tyrosinase; himalayan
• MGI ID: MGI:1855979
• Gene: Tyr Location: Chr7:87073979-87142637 bp, - strand Genetic Position: Chr7, 49.01 cM
• Alliance: Tyr^c-h page

Tyr^c-h/ Tyr^c-h

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

Mutation origin

• Strain of Origin: (DBA/2 x AKR/J)F1

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: 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). (J:9824)
• Inheritance: Semidominant

Disease models

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Tumor Data

List all tumor models in MMHCdb carrying Tyr^c-h

Find Mice (IMSR)

• 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: 382 strains or lines available

Notes

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).

References

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