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

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: 25 reference(s)