Tyrp1<isa> Spontaneous Allele Detail MGI Mouse (MGI:2178126)

Tyrp1^isa
Spontaneous Allele Detail

Summary

Symbol:	Tyrp1^isa
Name:	tyrosinase-related protein 1; iris stromal atrophy
MGI ID:	MGI:2178126
Synonyms:	isa
Gene:	Tyrp1 Location: Chr4:80752360-80769956 bp, + strand Genetic Position: Chr4, 37.89 cM
Alliance:	Tyrp1^isa page

Mutation
origin

Strain of Origin:

DBA/2J

Mutation
description

Allele Type:		Spontaneous
Mutation:		Other
		Mutation details: Expression of a BAC containing the wild-type Tyrp1 gene rescues the phenotype of isa mice. The isa phenotype has been identified in numerous aged stocks carrying Tyrp1^b allele. It is therefore most probable, that the Tyrp1^b allele is responsible for the isa phenotype. (J:75398)
Inheritance:		Not Specified

Phenotypes

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

Disease models

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Find Mice (IMSR)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 3 strains available Cell Lines: 0 lines available
Carrying any Tyrp1 Mutation:	162 strains or lines available

Notes

The mouse strain DBA/2J develops glaucoma associated with iris stromal atrophy and iris pigment dispersion phneotypes. Genetic studies defined two separate loci that contribute to the overall phenotype in the DBA/2J mouse, ipd and isa. Either mutation in a homozygous state contributes to glaucoma, while mice homozygous for both mutations develop an earlier onset and more severe iris disease.

References

Original:	J:54013 Chang B, et al., Interacting loci cause severe iris atrophy and glaucoma in DBA/2J mice. Nat Genet. 1999 Apr;21(4):405-9
All:	24 reference(s)

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