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Phenotypes Associated with This Genotype
Genotype
MGI:6423341
Allelic
Composition
Prph2tm1.1Itl/Prph2tm1.1Itl
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prph2tm1.1Itl mutation (0 available); any Prph2 mutation (28 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• widespread yellow flecks are seen in the fundus at P180
• however, no changes in retinal vasculature are seen at P180
• small rounded outer segment structures are seen at P30 that disappear by P180
• outer segment formation initiates, however structures are small at P30 and outer segments do not exhibit normal discs/lamellae but do have flattened, whorl shaped membranes
• many abnormal vesicular structures line up adjacent to the flattened discs
• abnormal disc sizing
• misorientation of outer segment discs in relation to each other and the axoneme/connecting cilium
• photoreceptor degeneration is severe by P180
• small reduction in the outer nuclear layer thickness at P30 and by P180, the outer nuclear layer is thin in the central retina and almost absent in the periphery
• scotopic a wave amplitude is reduced at P30 and P180
• scotopic b wave amplitude is reduced at P30 and P180
• photopic b wave amplitude is reduced at P30 and P180
• photopic ERG responses are lower
• scotopic responses are reduced at P30 and P180, with no mice exhibiting an a-wave above the limit of detection

nervous system
• small rounded outer segment structures are seen at P30 that disappear by P180
• outer segment formation initiates, however structures are small at P30 and outer segments do not exhibit normal discs/lamellae but do have flattened, whorl shaped membranes
• many abnormal vesicular structures line up adjacent to the flattened discs
• abnormal disc sizing
• misorientation of outer segment discs in relation to each other and the axoneme/connecting cilium
• photoreceptor degeneration is severe by P180

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
patterned macular dystrophy 1 DOID:0060866 OMIM:169150
J:215646


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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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory