About   Help   FAQ
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 (27 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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
04/16/2024
MGI 6.23
The Jackson Laboratory