All Phenotypes Gpnmb<R150X> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Gpnmb^R150X
iris pigment dispersion
MGI:2177814

Summary

7 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gpnmb^R150X/Gpnmb^R150X	B6.D2-Gpnmb^R150X	MGI:3773274
hm2	Gpnmb^R150X/Gpnmb^R150X	DBA/2J	MGI:2178286
hm3	Gpnmb^R150X/Gpnmb^R150X	involves: C57BL/6J * DBA/2J	MGI:2178291
cx4	Gpnmb^R150X/Gpnmb^R150X Tyr^c-2J/Tyr^c-2J Tyrp1^b/Tyrp1^b	B6.Cg-Tyrp1^b Gpnmb^R150X Tyr^c-2J	MGI:3773287
cx5	Gpnmb^R150X/Gpnmb^R150X Tyrp1^b/Tyrp1^b	B6.D2-Tyrp1^b Gpnmb^R150X	MGI:3773276
cx6	Gpnmb^R150X/Gpnmb^R150X Tyrp1^isa/Tyrp1^isa	DBA/2J	MGI:2178287
cx7	Gpnmb^R150X/Gpnmb^R150X Tyrp1^isa/Tyrp1^isa	involves: C57BL/6J * DBA/2J	MGI:2178293

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gpnmb^R150X mutation (4 available); any Gpnmb mutation (39 available)

♀	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

Allelic Composition	Gpnmb^R150X/Gpnmb^R150X
Genetic Background	DBA/2J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gpnmb^R150X mutation (4 available); any Gpnmb mutation (39 available)

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

vision/eye

abnormal iris pigmentation ( J:54013 )

• pigment dispersion in the iris

pigmentation

abnormal iris pigmentation ( J:54013 )

• pigment dispersion in the iris

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
pigment dispersion syndrome		DOID:0060680	OMIM:600510	J:54013

Allelic Composition	Gpnmb^R150X/Gpnmb^R150X
Genetic Background	involves: C57BL/6J * DBA/2J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gpnmb^R150X mutation (4 available); any Gpnmb mutation (39 available)

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

vision/eye

abnormal iris pigmentation ( J:54013 )

• pigment dispersion in the iris

pigmentation

abnormal iris pigmentation ( J:54013 )

• pigment dispersion in the iris

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
pigment dispersion syndrome		DOID:0060680	OMIM:600510	J:54013

Allelic Composition	Gpnmb^R150X/Gpnmb^R150X Tyr^c-2J/Tyr^c-2J Tyrp1^b/Tyrp1^b
Genetic Background	B6.Cg-Tyrp1^b Gpnmb^R150X Tyr^c-2J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gpnmb^R150X mutation (4 available); any Gpnmb mutation (39 available)
Tyr^c-2J mutation (25 available); any Tyr mutation (375 available)
Tyrp1^b mutation (29 available); any Tyrp1 mutation (162 available)

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

Tyrosinase deficiency prevents iris disease in Gpnmb^R150X/Gpnmb^R150X Tyrp1^b/Tyrp1^b Tyr^c-2J/Tyr^c-2J mice

vision/eye

vision/eye phenotype ( J:128215 )

N	• triple mutants do not develop iris disease as seen in double Gpnmb^R150X and Tyrp1^bmice

Allelic Composition	Gpnmb^R150X/Gpnmb^R150X Tyrp1^b/Tyrp1^b
Genetic Background	B6.D2-Tyrp1^b Gpnmb^R150X

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gpnmb^R150X mutation (4 available); any Gpnmb mutation (39 available)
Tyrp1^b mutation (29 available); any Tyrp1 mutation (162 available)

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

Gpnmb^R150X/Gpnmb^R150X Tyrp1^b/Tyrp1^b mice develop a severe iris disease

vision/eye

abnormal iris morphology ( J:128215 )

• double mutants develop iris disease that is first noticeable by 6 months of age, when all eyes show slight swelling of peripupillary tissue

• at 12, 14, and 18 months of age, increasing degree of iris atrophy is observed, that includes full-thickness iris holes, profound transillumination, pigment dispersion and frequent pigment accumulation on the lens and cornea, and changes to the dimensions of the anterior chamber

• however, mutants do not develop glaucomatus nerve damage that is seen in DBA/2J mice

abnormal iris pigmentation ( J:128215 )

• severe pigment dispersing iris disease

• timing and severity of pigment dispersing iris disease is similar to that seen in either single mutant on a DBA/2J background

iris atrophy ( J:128215 )

• atrophy is seen by 6-9 months of age

abnormal intraocular pressure ( J:128215 )

• double mutants are less susceptible to intraocular pressure elevation than DBA/2J mice

pigmentation

abnormal iris pigmentation ( J:128215 )

• severe pigment dispersing iris disease

• timing and severity of pigment dispersing iris disease is similar to that seen in either single mutant on a DBA/2J background

Allelic Composition	Gpnmb^R150X/Gpnmb^R150X Tyrp1^isa/Tyrp1^isa
Genetic Background	DBA/2J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gpnmb^R150X mutation (4 available); any Gpnmb mutation (39 available)
Tyrp1^isa mutation (3 available); any Tyrp1 mutation (162 available)

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

vision/eye

retina ganglion cell degeneration ( J:54013 )

• loss of retinal ganglion cells

optic nerve atrophy ( J:54013 )

abnormal iris pigment epithelium ( J:54013 )

• atrophy

abnormal iris stroma morphology ( J:54013 )

• atrophy

pigmentation

abnormal iris pigment epithelium ( J:54013 )

• atrophy

nervous system

retina ganglion cell degeneration ( J:54013 )

• loss of retinal ganglion cells

optic nerve atrophy ( J:54013 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
pigment dispersion syndrome		DOID:0060680	OMIM:600510	J:54013

Allelic Composition	Gpnmb^R150X/Gpnmb^R150X Tyrp1^isa/Tyrp1^isa
Genetic Background	involves: C57BL/6J * DBA/2J

Find Mice

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

vision/eye

retina ganglion cell degeneration ( J:54013 )

• loss of retinal ganglion cells

optic nerve atrophy ( J:54013 )

abnormal iris pigment epithelium ( J:54013 )

• atrophy

abnormal iris stroma morphology ( J:54013 )

• atrophy

pigmentation

abnormal iris pigment epithelium ( J:54013 )

• atrophy

nervous system

retina ganglion cell degeneration ( J:54013 )

• loss of retinal ganglion cells

optic nerve atrophy ( J:54013 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
pigment dispersion syndrome		DOID:0060680	OMIM:600510	J:54013

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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