Tyr<c-ch> Spontaneous Allele Detail MGI Mouse (MGI:1855977)

Tyr^c-ch
Spontaneous Allele Detail

Summary

Symbol:	Tyr^c-ch
Name:	tyrosinase; chinchilla
MGI ID:	MGI:1855977
Synonyms:	c^ch, c^r
Gene:	Tyr Location: Chr7:87073979-87142637 bp, - strand Genetic Position: Chr7, 49.01 cM
Alliance:	Tyr^c-ch page

Tyr^c/Tyr^c and Tyr^c/Tyr^c-ch Oca2^p/ Oca2^p

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

Mutation
origin

Strain of Origin:

fancier's stock

Mutation
description

Allele Type:		Spontaneous
Mutation:		Single point mutation
		Mutation details: The mutation in the chinchilla allele was found to be a G-to-A point mutation that results in an amino acid change at position 482 or 464 from alanine to threonine (p.A482T for pre-protein, p.A464T for mature protein). (J:19279)
Inheritance:		Recessive

Phenotypes

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

Expression

In Mice Carrying this Mutation:	7 assay results 3 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	2 anatomical structure(s)

Tumor Data

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

Find Mice (IMSR)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 79 strains available Cell Lines: 0 lines available
Carrying any Tyr Mutation:	379 strains or lines available

References

Original:	J:14850 Feldman HW, A fourth allelomorph in the albino series in mice. Am Naturalist. 1922;56:573-574
All:	49 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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