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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
GpnmbR150X
iris pigment dispersion
MGI:2177814
Summary 7 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
GpnmbR150X/GpnmbR150X B6.D2-GpnmbR150X MGI:3773274
hm2
GpnmbR150X/GpnmbR150X DBA/2J MGI:2178286
hm3
GpnmbR150X/GpnmbR150X involves: C57BL/6J * DBA/2J MGI:2178291
cx4
GpnmbR150X/GpnmbR150X
Tyrc-2J/Tyrc-2J
Tyrp1b/Tyrp1b
B6.Cg-Tyrp1b GpnmbR150X Tyrc-2J MGI:3773287
cx5
GpnmbR150X/GpnmbR150X
Tyrp1b/Tyrp1b
B6.D2-Tyrp1b GpnmbR150X MGI:3773276
cx6
GpnmbR150X/GpnmbR150X
Tyrp1isa/Tyrp1isa
DBA/2J MGI:2178287
cx7
GpnmbR150X/GpnmbR150X
Tyrp1isa/Tyrp1isa
involves: C57BL/6J * DBA/2J MGI:2178293


Genotype
MGI:3773274
hm1
Allelic
Composition
GpnmbR150X/GpnmbR150X
Genetic
Background
B6.D2-GpnmbR150X
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
GpnmbR150X mutation (3 available); any Gpnmb mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

GpnmbR150X/GpnmbR150X mouse eyes develop a pronounced peripupillary swelling

vision/eye
• 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
• develop a pigment dispersing iris disease
• the iris surface maintains an overall normal morphology during the fist year, after which it becomes increasingly atrophic

pigmentation
• develop a pigment dispersing iris disease

Mouse Models of Human Disease
OMIM ID Ref(s)
Glaucoma-Related Pigment Dispersion Syndrome; GPDS1 600510 J:128215




Genotype
MGI:2178286
hm2
Allelic
Composition
GpnmbR150X/GpnmbR150X
Genetic
Background
DBA/2J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
GpnmbR150X mutation (3 available); any Gpnmb mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• pigment dispersion in the iris

pigmentation
• pigment dispersion in the iris

Mouse Models of Human Disease
OMIM ID Ref(s)
Glaucoma-Related Pigment Dispersion Syndrome; GPDS1 600510 J:54013




Genotype
MGI:2178291
hm3
Allelic
Composition
GpnmbR150X/GpnmbR150X
Genetic
Background
involves: C57BL/6J * DBA/2J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
GpnmbR150X mutation (3 available); any Gpnmb mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• pigment dispersion in the iris

pigmentation
• pigment dispersion in the iris

Mouse Models of Human Disease
OMIM ID Ref(s)
Glaucoma-Related Pigment Dispersion Syndrome; GPDS1 600510 J:54013




Genotype
MGI:3773287
cx4
Allelic
Composition
GpnmbR150X/GpnmbR150X
Tyrc-2J/Tyrc-2J
Tyrp1b/Tyrp1b
Genetic
Background
B6.Cg-Tyrp1b GpnmbR150X Tyrc-2J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
GpnmbR150X mutation (3 available); any Gpnmb mutation (15 available)
Tyrc-2J mutation (12 available); any Tyr mutation (366 available)
Tyrp1b mutation (97 available); any Tyrp1 mutation (164 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Tyrosinase deficiency prevents iris disease in GpnmbR150X/GpnmbR150X Tyrp1b/Tyrp1b Tyrc-2J/Tyrc-2J mice

vision/eye
N
• triple mutants do not develop iris disease as seen in double GpnmbR150X and Tyrp1bmice




Genotype
MGI:3773276
cx5
Allelic
Composition
GpnmbR150X/GpnmbR150X
Tyrp1b/Tyrp1b
Genetic
Background
B6.D2-Tyrp1b GpnmbR150X
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
GpnmbR150X mutation (3 available); any Gpnmb mutation (15 available)
Tyrp1b mutation (97 available); any Tyrp1 mutation (164 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

GpnmbR150X/GpnmbR150X Tyrp1b/Tyrp1b mice develop a severe iris disease

vision/eye
• 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
• 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
• atrophy is seen by 6-9 months of age
• double mutants are less susceptible to intraocular pressure elevation than DBA/2J mice

pigmentation
• 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




Genotype
MGI:2178287
cx6
Allelic
Composition
GpnmbR150X/GpnmbR150X
Tyrp1isa/Tyrp1isa
Genetic
Background
DBA/2J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
GpnmbR150X mutation (3 available); any Gpnmb mutation (15 available)
Tyrp1isa mutation (3 available); any Tyrp1 mutation (164 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• loss of retinal ganglion cells

pigmentation

nervous system
• loss of retinal ganglion cells

Mouse Models of Human Disease
OMIM ID Ref(s)
Glaucoma-Related Pigment Dispersion Syndrome; GPDS1 600510 J:54013




Genotype
MGI:2178293
cx7
Allelic
Composition
GpnmbR150X/GpnmbR150X
Tyrp1isa/Tyrp1isa
Genetic
Background
involves: C57BL/6J * DBA/2J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
GpnmbR150X mutation (3 available); any Gpnmb mutation (15 available)
Tyrp1isa mutation (3 available); any Tyrp1 mutation (164 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• loss of retinal ganglion cells

pigmentation

nervous system
• loss of retinal ganglion cells

Mouse Models of Human Disease
OMIM ID Ref(s)
Glaucoma-Related Pigment Dispersion Syndrome; GPDS1 600510 J:54013





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last database update
06/15/2016
MGI 6.04
The Jackson Laboratory