Phenotypes Associated with This Genotype

Genotype
MGI:3842519

• Allelic Composition: Atoh7^tm1Gan/Atoh7^tm1Gan; Pou4f2^tm1Nat/Pou4f2^tm1Nat
• Genetic Background: B6.Cg-Pou4f2^tm1Nat Atoh7^tm1Gan

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

vision/eye

increased retina apoptosis ( J:135827 )

• at E16.5, there is a 65% increase in the number of apoptotic cells compared to controls

• at day of birth, apoptotic numbers are 500% greater than in controls

abnormal retina morphology ( J:135827 )

• a higher number of retinal cells are actively proliferating at E16.5

abnormal Muller cell morphology ( J:135827 )

• Muller cells are reduced by about 30%

decreased amacrine cell number ( J:135827 )

• there is a 70% reduction of amacrine cells

abnormal retina rod bipolar cell morphology ( J:135827 )

• rod bipolar cells are reduced by 45% and are found in patches instead of being evenly distributed

abnormal retina ganglion cell morphology ( J:135827 )

• the small number of retinal ganglion cells have small and underdeveloped axons

decreased retina ganglion cell number ( J:135827 )

• retinal ganglion cells are virtually absent with less than 1% of the normal number present

• cells are absent at birth suggesting an early developmental defect

thin retina ganglion layer ( J:135827 )

• the virtual absent of retinal ganglion cells leads to a decrease in layer thickness

thin retina inner nuclear layer ( J:135827 )

• there is a 65% reduction in the number of cells found in the inner nuclear layer including a 70% reduction of amacrine cells

thin retina outer nuclear layer ( J:135827 )

• there is a 50% reduction in the number of cells found in the outer nuclear layer

retina hypoplasia ( J:135827 )

• retinal thickness at the day of birth is reduced by about 50% compared to controls

abnormal eye electrophysiology ( J:135827 )

• b waves are significantly reduced under scotopic conditions and are absent under photopic conditions

nervous system

abnormal Muller cell morphology ( J:135827 )

• Muller cells are reduced by about 30%

decreased amacrine cell number ( J:135827 )

• there is a 70% reduction of amacrine cells

abnormal retina rod bipolar cell morphology ( J:135827 )

• rod bipolar cells are reduced by 45% and are found in patches instead of being evenly distributed

abnormal retina ganglion cell morphology ( J:135827 )

• the small number of retinal ganglion cells have small and underdeveloped axons

decreased retina ganglion cell number ( J:135827 )

• retinal ganglion cells are virtually absent with less than 1% of the normal number present

• cells are absent at birth suggesting an early developmental defect

cellular

abnormal Muller cell morphology ( J:135827 )

• Muller cells are reduced by about 30%

increased retina apoptosis ( J:135827 )

• at E16.5, there is a 65% increase in the number of apoptotic cells compared to controls

• at day of birth, apoptotic numbers are 500% greater than in controls