Gpnmb^R150X
Spontaneous Allele Detail

Summary

• Symbol: Gpnmb^R150X
• Name: glycoprotein (transmembrane) nmb; iris pigment dispersion
• MGI ID: MGI:2177814
• Synonyms: Gpnmb^ipd
• Gene: Gpnmb Location: Chr6:49013449-49044413 bp, + strand Genetic Position: Chr6, 23.82 cM
• Alliance: Gpnmb^R150X page

Gpnmb^R150X/Gpnmb^R150X 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

Disease models

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)