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GpnmbR150X
Spontaneous Allele Detail
Summary
Symbol: GpnmbR150X
Name: glycoprotein (transmembrane) nmb; iris pigment dispersion
MGI ID: MGI:2177814
Synonyms: Gpnmbipd
Gene: Gpnmb  Location: Chr6:49013449-49044413 bp, + strand  Genetic Position: Chr6, 23.82 cM
Alliance: GpnmbR150X page
GpnmbR150X/GpnmbR150X mouse eyes develop a pronounced peripupillary swelling

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

Mutation
origin
Strain of Origin:  DBA/2J
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation details: 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. (J:75398)
Inheritance:    Not Specified
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 3 RNA-Seq or microarray experiment(s)
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: 4 strains available      Cell Lines: 0 lines available
Carrying any Gpnmb Mutation:  43 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:  48 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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Send questions and comments to User Support. 		last database update
10/29/2024
MGI 6.24 		The Jackson Laboratory