Mouse Genome Informatics
hm1
    GpnmbR150X/GpnmbR150X
B6.D2-GpnmbR150X
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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 IDRef(s)
Glaucoma-Related Pigment Dispersion Syndrome; GPDS1 600510 J:128215


Mouse Genome Informatics
hm2
    GpnmbR150X/GpnmbR150X
DBA/2J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
vision/eye
• pigment dispersion in the iris

pigmentation
• pigment dispersion in the iris

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


Mouse Genome Informatics
hm3
    GpnmbR150X/GpnmbR150X
involves: C57BL/6J * DBA/2J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
vision/eye
• pigment dispersion in the iris

pigmentation
• pigment dispersion in the iris

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


Mouse Genome Informatics
cx4
    GpnmbR150X/GpnmbR150X
Tyrc-2J/Tyrc-2J
Tyrp1b/Tyrp1b

B6.Cg-Tyrp1b GpnmbR150X Tyrc-2J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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 (J:128215)


Mouse Genome Informatics
cx5
    GpnmbR150X/GpnmbR150X
Tyrp1b/Tyrp1b

B6.D2-Tyrp1b GpnmbR150X
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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


Mouse Genome Informatics
cx6
    GpnmbR150X/GpnmbR150X
Tyrp1isa/Tyrp1isa

DBA/2J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
vision/eye
• loss of retinal ganglion cells

pigmentation

nervous system
• loss of retinal ganglion cells

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


Mouse Genome Informatics
cx7
    GpnmbR150X/GpnmbR150X
Tyrp1isa/Tyrp1isa

involves: C57BL/6J * DBA/2J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
vision/eye
• loss of retinal ganglion cells

pigmentation

nervous system
• loss of retinal ganglion cells

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