Phenotypes Associated with This Genotype

Genotype
MGI:3773274

• Allelic Composition: Gpnmb^R150X/Gpnmb^R150X
• Genetic Background: B6.D2-Gpnmb^R150X

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

Gpnmb^R150X/Gpnmb^R150X mouse eyes develop a pronounced peripupillary swelling

vision/eye

abnormal iris morphology ( J:128215 )

• mutants develop iris disease that is first noticeable at 6 months of age when eyes develop a pronounced peripupillary swelling accompanied by pronounced accumulation of clump cells on the iris surface

abnormal iris pigmentation ( J:128215 )

• develop a pigment dispersing iris disease

iris atrophy ( J:128215 )

• the iris surface maintains an overall normal morphology during the fist year, after which it becomes increasingly atrophic

pigmentation

abnormal iris pigmentation ( J:128215 )

• develop a pigment dispersing iris disease

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
pigment dispersion syndrome		DOID:0060680	OMIM:600510	J:128215