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Allele : Gpnmb<R150X> glycoprotein (transmembrane) nmb; iris pigment dispersion

Primary Identifier  MGI:2177814 Allele Type  Spontaneous
Gene  Gpnmb Inheritance Mode  Not Specified
Strain of Origin  DBA/2J Is Recombinase  false
Is Wild Type  false
description 

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.

molecularNote  The underlying mutation responsible for the phenotype in the iris pigment dispersion mouse was identified as a C-to-T substitution that resulted in a nonsense mutation, p.Arg150Ter.
  • mutations:
  • Single point mutation
  • synonyms:
  • Gpnmb<ipd>,
  • Gpnmb<ipd>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

6 Carried By

Trail: Allele

0 Driven By

48 Publication categories

Trail: Allele