Phenotypes Associated with This Genotype

Genotype
MGI:3038333

• Allelic Composition: Rp1^tm1Jnz/Rp1^tm1Jnz
• Genetic Background: involves: 129S7/SvEvBrd

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

Progressive degeneration of photoreceptors of Rp1^tm1Jnz/Rp1^tm1Jnz mice

vision/eye

abnormal ocular fundus morphology ( J:76071 )

• optic nerve pallor and smaller retinal blood vessels

abnormal retina photoreceptor morphology ( J:76071 )

• abnormalities are found in both rods and cones

decreased retina photoreceptor cell number ( J:76071 )

• 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

abnormal photoreceptor outer segment morphology ( J:76071 , J:109781 )

• 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)

retina cone cell degeneration ( J:76071 )

• cone degeneration takes place more slowly than in rods, not significant before 10 months of age

abnormal eye physiology ( J:76071 )

• progressive dysfunction of rods and cones begins at around 2 months and continues throughout the first year of life

abnormal rod electrophysiology ( J:151463 )

• 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

abnormal retina photoreceptor morphology ( J:76071 )

• abnormalities are found in both rods and cones

decreased retina photoreceptor cell number ( J:76071 )

• 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

abnormal photoreceptor outer segment morphology ( J:76071 , J:109781 )

• 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)

retina cone cell degeneration ( J:76071 )

• cone degeneration takes place more slowly than in rods, not significant before 10 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
retinitis pigmentosa 1		DOID:0110390	OMIM:180100	J:76071