Mouse Genome Informatics
hm
    Rp1tm1Jnz/Rp1tm1Jnz
involves: 129S7/SvEvBrd
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       

Progressive degeneration of photoreceptors of Rp1tm1Jnz/Rp1tm1Jnz mice

vision/eye
• optic nerve pallor and smaller retinal blood vessels
• abnormalities are found in both rods and cones
• after 21 days of age there is a significant drop in the number of photoreceptors
• reduced by 50% by 3 months of age
• apoptosis levels are higher among photoreceptors
• length of outer segment normal until about 25 days of age after which progressive degeneration begins; by 9 months, the length is negligible (J:76071)
• discs and whorls in the outer segment are variable in size and lack correct orientation; by 9 months few discs and whorls remain (J:76071)
• accumulation of short stacks of enlarged disoriented discs in place of organized outer segments (J:109781)
• cone degeneration takes place more slowly than in rods, not significant before 10 months of age
• progressive dysfunction of rods and cones begins at around 2 months and continues throughout the first year of life
• single photon response amplitude is elevated 1.6-fold compared to controls
• time to peak to single-photon stimulus is 1.2 fold longer than controls
• amplitudes of saturating responses are significantly decreased by 45%

nervous system
• abnormalities are found in both rods and cones
• after 21 days of age there is a significant drop in the number of photoreceptors
• reduced by 50% by 3 months of age
• apoptosis levels are higher among photoreceptors
• length of outer segment normal until about 25 days of age after which progressive degeneration begins; by 9 months, the length is negligible (J:76071)
• discs and whorls in the outer segment are variable in size and lack correct orientation; by 9 months few discs and whorls remain (J:76071)
• accumulation of short stacks of enlarged disoriented discs in place of organized outer segments (J:109781)
• cone degeneration takes place more slowly than in rods, not significant before 10 months of age

Mouse Models of Human Disease
OMIM IDRef(s)
Retinitis Pigmentosa 1; RP1 180100 J:76071