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Phenotypes Associated with This Genotype
Genotype
MGI:3836162
Allelic
Composition
Prph2tm1Nmc/Prph2+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prph2tm1Nmc mutation (0 available); any Prph2 mutation (28 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• the outer segment of cells in the outer nuclear layer are disrupted in number and configuration compared to in wild-type mice
• whorl-like structures
• fewer phagosomes are observed than in wild-type mice despite ongoing phagocytosis of the membrane
• at 6 months, the outer nuclear layer (ONL) is only 4 or 5 nuclei thick and there is evidence of ongoing depletion of cells unlike in wild-type mice
• at 10 months, the ONL is only 3 or 4 nuclei thick unlike in wild-type mice
• mice exhibit 9 or 10 rows of photoreceptor nuclei at 2 months, 4 or 5 rows at 6 months, and 2 or 3 rows at 12 months of age indicating a faster degeneration than in Prph2Rd2 heterozygotes
• at 6 months, a- and b-wave of dark-adapted eyes are less than in wild-type mice
• at 10 months, a- and b-waves, maximal dark-adapted responses, and cone-isolated responses are further reduced

nervous system
• the outer segment of cells in the outer nuclear layer are disrupted in number and configuration compared to in wild-type mice
• whorl-like structures

pigmentation
• fewer phagosomes are observed than in wild-type mice despite ongoing phagocytosis of the membrane

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
retinitis pigmentosa 7 DOID:0110383 OMIM:608133
J:76490


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