Phenotypes Associated with This Genotype

Genotype
MGI:3641413

• Allelic Composition: Atoh7^tm1Gla/Atoh7^tm1Gla
• Genetic Background: involves: 129S1/Sv * 129S1/SvImJ * 129X1/SvJ * C57BL/6J

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

vision/eye

absent optic nerve ( J:70746 )

• absent optic nerve and chiasma in adults

• at E13.5 and E15.5 no signs of even a rudimentary optic nerve are detected

abnormal eye development ( J:70746 )

• at E13.5 a small number of poorly organized nascent retinal ganglion cells are seen

• at P0.5 increased density of differentiating cones is seen

abnormal optic vesicle formation ( J:70746 )

• no optic stalk remnant is seen in adults

abnormal retina morphology ( J:70746 )

• most eyes have areas of disrupted layering which may include rosettes

abnormal retina vasculature morphology ( J:70746 )

• ectopic blood vessels are seen in the posterior chamber and occasionally in the ganglion cell and the inner plexiform layers

absent retina ganglion layer ( J:70746 )

• at E13.5, no well formed layer is seen and the few axons that are present are not bundled into nerve fibers

thin retina inner nuclear layer ( J:70746 )

• thinner

thin retina inner plexiform layer ( J:70746 )

• thinner

decreased total retina thickness ( J:70746 )

• 20-25% thinner, primarily the result of decreased width of the inner plexiform and inner nuclear layers

cardiovascular system

abnormal blood vessel morphology ( J:70746 )

• the central artery and vein which enter the eye via the optic nerve are absent

abnormal retina vasculature morphology ( J:70746 )

• ectopic blood vessels are seen in the posterior chamber and occasionally in the ganglion cell and the inner plexiform layers

nervous system

absent optic nerve ( J:70746 )

• absent optic nerve and chiasma in adults

• at E13.5 and E15.5 no signs of even a rudimentary optic nerve are detected