Phenotypes Associated with This Genotype

Genotype
MGI:4354111

• Allelic Composition: Rp1l1^tm1Jnz/Rp1l1^tm1Jnz
• Genetic Background: involves: 129S7/SvEvBrd

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

vision/eye

abnormal retina morphology ( J:151463 )

• fundus images at 6 and 12 months reveal subretinal deposits, atrophy, and thinner arteries

decreased retina photoreceptor cell number ( J:151463 )

• at 12 months of age, photoreceptor number is 60% of that found in controls

abnormal photoreceptor outer segment morphology ( J:151463 )

• the percentage of obviously abnormal outer segments increases with age

• 15.1 % at 1 month of age to 25.7% at 6 months of age to 19.9 % at 12 months relative to controls (3.1% at 1 month, 6.5% at 6 months, and 2.1% at 12 months)

• defects include vacuoles and disarrayed or swirling discs

• swirling discs sometimes formed sharp boundaries forming discrete segments along the OS

short photoreceptor outer segment ( J:151463 )

• the outer segment is shorter at 1, 6 and 12 months of age

retina rod cell degeneration ( J:151463 )

• rod photoreceptors are lost with age

• there is a slight increase in apoptotic rod photoreceptors at 3 months of age

• there is also an increase ganglion cell activation as these cells respond to damage at 3 months of age

thin retina outer nuclear layer ( J:151463 )

• outer nuclear layer is thinner at 1, 6 and 12 months of age

• this layer get thinner as mice age with a 30% reduction at 6 months of age and a 40% reduction at 12 months of age

abnormal cone electrophysiology ( J:151463 )

• cone (photopic) b-waves are reduced significantly only at 12 months to 74% of the wild-type level

abnormal rod electrophysiology ( J:151463 )

• maximum rod (scotopic) a-wave responses to high-intensity flashes is reduced at 6 and 12 months to 70% and 54% compared with age-matched wild-type mice

• rod (scotopic) b-waves at 12 months of age are significantly reduced to 79% of those of wild-type controls

• flash sensitivity of rod photoreceptors is reduced about 50% at 3-4 weeks of age

nervous system

decreased retina photoreceptor cell number ( J:151463 )

• at 12 months of age, photoreceptor number is 60% of that found in controls

abnormal photoreceptor outer segment morphology ( J:151463 )

• the percentage of obviously abnormal outer segments increases with age

• 15.1 % at 1 month of age to 25.7% at 6 months of age to 19.9 % at 12 months relative to controls (3.1% at 1 month, 6.5% at 6 months, and 2.1% at 12 months)

• defects include vacuoles and disarrayed or swirling discs

• swirling discs sometimes formed sharp boundaries forming discrete segments along the OS

short photoreceptor outer segment ( J:151463 )

• the outer segment is shorter at 1, 6 and 12 months of age

retina rod cell degeneration ( J:151463 )

• rod photoreceptors are lost with age

• there is a slight increase in apoptotic rod photoreceptors at 3 months of age

• there is also an increase ganglion cell activation as these cells respond to damage at 3 months of age