Phenotypes Associated with This Genotype

Genotype
MGI:3056813

• Allelic Composition: Cabp4^tm1Kpal/Cabp4^tm1Kpal
• Genetic Background: involves: C57BL/6

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

vision/eye

abnormal retina morphology ( J:93216 )

abnormal retina rod bipolar cell morphology ( J:93216 )

• rod bipolar dendrites poorly branched and underdeveloped

• occasionally extend into outer nuclear layer

abnormal retina neuronal layer morphology ( J:93216 )

abnormal retina cone cell morphology ( J:93216 )

• cone pedicles disorganized and flat

abnormal retina rod cell morphology ( J:93216 )

• rod spherules disorganized and flat

short retina rod cell outer segment ( J:93216 )

• rod outer segments about 15% shorter with lower disk density

thin retina outer nuclear layer ( J:93216 )

• outer nuclear layer missing 1-2 layers of cell bodies

thin retina outer plexiform layer ( J:93216 )

• outer plexiform layer reduced about 51% with a 33% reduction in numbers of photoreceptor terminals and 37% reduction of synaptic ribbons

• changes in outer plexiform layer more pronounced at 6-8 months than at 2 months

abnormal eye physiology ( J:93216 )

abnormal eye electrophysiology ( J:93216 )

• signal transfer to both rod and cone bipolar cells severely reduced

abnormal cone electrophysiology ( J:93216 )

• light adapted ERG a-waves differ by about 20% from normal while b-waves are significantly reduced

abnormal rod electrophysiology ( J:93216 )

• dark adapted ERG a-wave and b-wave components both reduced

• rod photoreceptors exhibit faster responses and less sensitivity

nervous system

abnormal retina rod bipolar cell morphology ( J:93216 )

• rod bipolar dendrites poorly branched and underdeveloped

• occasionally extend into outer nuclear layer

abnormal retina cone cell morphology ( J:93216 )

• cone pedicles disorganized and flat

abnormal retina rod cell morphology ( J:93216 )

• rod spherules disorganized and flat

short retina rod cell outer segment ( J:93216 )

• rod outer segments about 15% shorter with lower disk density