Phenotypes Associated with This Genotype

Genotype
MGI:3712782

• Allelic Composition: Pde6d^tm1.1Wbae/Pde6d^tm1.1Wbae
• Genetic Background: involves: BALB/cJ * C57BL/6

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

growth/size/body

decreased body weight ( J:121745 )

• mice have 20-30% reduced body weight compared to heterozygotes or wild-type

vision/eye

decreased retina cone cell number ( J:121745 )

• cone photoreceptors are still found at 20 months but in greatly reduced numbers relative to 2-month old mutants where photoreceptors retain their normal shape

abnormal retina rod cell morphology ( J:121745 )

short retina rod cell outer segment ( J:121745 )

• a shortening of rod outer segments (ROS) is observed as early as 4 weeks of age at onset of degeneration

thin retina outer nuclear layer ( J:121745 )

• at 5 months of age, thinning of outer nuclear layer containing photoreceptor nuclei occurs

• by 20 months of age, only 3-8 rows of nuclei remain in outer nuclear layer

retina degeneration ( J:121745 )

• slow degeneration is observed, beginning at ~4 weeks

abnormal eye electrophysiology ( J:121745 )

• single photon response from rods are larger and longer than control rods (time to peak 280 msec for Pde6b-null rods vs 213 msec for control)

• half-maximal flash strengths are lower in mutant rods

abnormal cone electrophysiology ( J:121745 )

• under photopic conditions, cone response is strongly diminished; most intense flash produces a b-wave with amplitude one-third of normal size

abnormal rod electrophysiology ( J:121745 )

• under scotopic (dim light) conditions, a-wave amplitudes are lower than in wild-type at intensities higher than -1.03 log cd/s/m^-2; b-wave amplitudes decrease at intensities higher than -1.03 log cd/s/m^-2

• in double-flash experiments, b-wave does not recover from primary flash with interstimulus intervals from 600 msec to 5 seconds; with intervals up to 20 minutes, b-wave of second response does not its reach normal amplitude

nervous system

decreased retina cone cell number ( J:121745 )

• cone photoreceptors are still found at 20 months but in greatly reduced numbers relative to 2-month old mutants where photoreceptors retain their normal shape

abnormal retina rod cell morphology ( J:121745 )

short retina rod cell outer segment ( J:121745 )

• a shortening of rod outer segments (ROS) is observed as early as 4 weeks of age at onset of degeneration