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Spontaneous Allele Detail
Symbol: GpnmbR150X
Name: glycoprotein (transmembrane) nmb; iris pigment dispersion
MGI ID: MGI:2177814
Synonyms: Gpnmbipd
Gene: Gpnmb  Location: Chr6:49036518-49058182 bp, + strand  Genetic Position: Chr6, 23.82 cM
GpnmbR150X/GpnmbR150X mouse eyes develop a pronounced peripupillary swelling

Show the 3 phenotype image(s) involving this allele.

Strain of Origin:  DBA/2J
Allele Type:    Spontaneous
Mutation:    Single point mutation
Mutation detailsThe 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, Arg150stop. (J:75398)
Inheritance:    Not Specified
View phenotypes for all genotypes (concatenated display).
Disease models
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Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 1 line available
Carrying any Gpnmb Mutation:  7 strains or lines available

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.

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:  20 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.01
The Jackson Laboratory