Phenotypes Associated with This Genotype

Genotype
MGI:3057125

• Allelic Composition: Neurod1^tm1Jle/Neurod1^tm1Jle
• Genetic Background: involves: 129S4/SvJaeSor * C57BL/6

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

mortality/aging

postnatal lethality, complete penetrance ( J:74715 )

• homozygotes die within 5 days after birth due neonatal diabetes

homeostasis/metabolism

hyperglycemia ( J:74715 )

• homozygotes become severely diabetic soon after birth

vision/eye

abnormal retina apoptosis ( J:51299 )

• a subset of photoreceptors in mutant retinal explants undergo apoptosis after 12 days of culture

abnormal Muller cell morphology ( J:51299 )

• after 12 days of culture, explants initiated from mutant retinal tissue at P0 (before the onset of hyperglycemia) show a 3-to 4-fold increase of Muller glia in the inner nuclear layer

• ectopic Muller cell bodies are occasionally noted in the outer nuclear layer

abnormal amacrine cell morphology ( J:51299 )

• retinal explant cultures exhibit delayed amacrine cell differentiation

• in contrast, the initial stages of cone, rod and Muller cell differentiation appear unaffected

• notably, the number of amacrine cells reaches normal levels after 12 days in culture

abnormal retina bipolar cell morphology ( J:51299 )

• retinal explant cultures exhibit a 2-fold increase in bipolar cell differentiation

• notably, overpresentation of bipolar neurons in mutant retina appears to be dependent on gene dosage

nervous system

abnormal Muller cell morphology ( J:51299 )

• after 12 days of culture, explants initiated from mutant retinal tissue at P0 (before the onset of hyperglycemia) show a 3-to 4-fold increase of Muller glia in the inner nuclear layer

• ectopic Muller cell bodies are occasionally noted in the outer nuclear layer

abnormal amacrine cell morphology ( J:51299 )

• retinal explant cultures exhibit delayed amacrine cell differentiation

• in contrast, the initial stages of cone, rod and Muller cell differentiation appear unaffected

• notably, the number of amacrine cells reaches normal levels after 12 days in culture

abnormal retina bipolar cell morphology ( J:51299 )

• retinal explant cultures exhibit a 2-fold increase in bipolar cell differentiation

• notably, overpresentation of bipolar neurons in mutant retina appears to be dependent on gene dosage

cellular

abnormal retina apoptosis ( J:51299 )

• a subset of photoreceptors in mutant retinal explants undergo apoptosis after 12 days of culture