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Phenotypes Associated with This Genotype
Genotype
MGI:3620587
Allelic
Composition
Prph2Rd2/Prph2+
Genetic
Background
either: (involves: BALB/c * O20/A) or (involves: GR/A * O20/A) or (involves: O20/A * STS/A)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prph2Rd2 mutation (3 available); any Prph2 mutation (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• at P14, considerable portions of the retinal surface have fewer outer segments and those present have disc structures that are irregularly oriented
• at 18 months, some photoreceptor synaptic terminals have multiple synaptic ribbons
• the percentage of cones in the retina increases from 6 months on, with greater increases in the periphery than in the center of the retina
• occasional inner segments with swollen endoplasmic reticuli and vacuoles
• outer segments are delayed in development but eventually appear throughout the retinal surface
• outer segments are reduced in length and morphologically abnormal appearing as round masses present from the apical end of the inner segments to the pigment epthelial villous processes
• these round masses contain irregular whorls of disc membranes that appear to be swollen and vacuolated
• at 18 months, outer segments become reduced and somewhat patchy
• pigment epithelial cells contain larger and more numerous phagosomes
• peak turnover of phagosomes during the light dark cycle is shifted towards the end of the light period
• maximal outer nuclear layer thickness is only 50-60% of wild-type
• at 18 months, outer nuclear layer thickness is markedly decreased
• thinning of the outer nuclear layer is first seen in the peripheral retina and later seen in the central retina

nervous system
• at 18 months, some photoreceptor synaptic terminals have multiple synaptic ribbons
• the percentage of cones in the retina increases from 6 months on, with greater increases in the periphery than in the center of the retina
• occasional inner segments with swollen endoplasmic reticuli and vacuoles
• outer segments are delayed in development but eventually appear throughout the retinal surface
• outer segments are reduced in length and morphologically abnormal appearing as round masses present from the apical end of the inner segments to the pigment epthelial villous processes
• these round masses contain irregular whorls of disc membranes that appear to be swollen and vacuolated
• at 18 months, outer segments become reduced and somewhat patchy

pigmentation
• pigment epithelial cells contain larger and more numerous phagosomes
• peak turnover of phagosomes during the light dark cycle is shifted towards the end of the light period

Mouse Models of Human Disease
OMIM ID Ref(s)
Retinitis Pigmentosa 7; RP7 608133 J:25582


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/19/2016
MGI 6.03
The Jackson Laboratory