Tyr<c-h> Spontaneous Allele Detail MGI Mouse (MGI:1855979)

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

Phenotypes

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Expression

In Structures Affected by this Mutation:

2 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:	379 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)

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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