mortality/aging
• homozygotes die within 5 days after birth due neonatal diabetes
|
homeostasis/metabolism
hyperglycemia
(
J:74715
)
• homozygotes become severely diabetic soon after birth
|
vision/eye
• a subset of photoreceptors in mutant retinal explants undergo apoptosis after 12 days of culture
|
• 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
|
• 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
|
• 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
• 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
|
• 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
|
• 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
• a subset of photoreceptors in mutant retinal explants undergo apoptosis after 12 days of culture
|