Mouse Genome Informatics
ht
    Prph2Rd2/Prph2+
either: (involves: BALB/c * O20/A) or (involves: GR/A * O20/A) or (involves: O20/A * STS/A)
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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 IDRef(s)
Retinitis Pigmentosa 7; RP7 608133 J:25582