Phenotypes Associated with This Genotype

Genotype
MGI:3505580

• Allelic Composition: Neurod1^tm1Jle/Neurod1^tm1Jle; Neurod4^tm1Kag/Neurod4^tm1Kag
• Genetic Background: involves: 129S4/SvJaeSor * C57BL/6 * CBA * ICR

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

mortality/aging

perinatal lethality, complete penetrance ( J:121047 )

vision/eye

vision/eye phenotype ( J:121047 )

N • normal number of horizontal cells

abnormal Muller cell morphology ( J:74573 )

• retinal explant cultures from double homozygotes show a modest increase in the number of Muller glial cells

• in contrast, bipolar and horizontal cells are normally generated

absent amacrine cells ( J:74573 )

• retinal explant cultures from double homozygotes exhibit complete loss of amacrine cells, in the absence of significant cell death

• notably, the total number of inner nuclear layer cells and ganglion cell layer cells remains unaffected

• evidence suggests that cells that fail to differentiate into amacrine cells adopt the ganglion and Muller glial cell fates

decreased retina photoreceptor cell number ( J:121047 )

• decrease is not greater than that in Neurod1^tm1Jle single homozygotes

abnormal optic nerve morphology ( J:74573 )

• at E17.5, optic nerves obtained from double homozygotes show a 1.7-fold increase in thickness relative to wild-type

abnormal retina ganglion layer morphology ( J:74573 )

• in wild-type retinas, about 60% of the GCL cells are displaced amacrine cells and the others are ganglion cells; in the double-mutant retina, all of the GCL cells are ganglion cells

increased retina ganglion cell number ( J:74573 )

• retinal explant cultures from double homozygotes show a significant increase in ganglion cells

• in addition, ectopic ganglion cells are found in the inner region of the INL of double mutant retina

nervous system

abnormal Muller cell morphology ( J:74573 )

• retinal explant cultures from double homozygotes show a modest increase in the number of Muller glial cells

• in contrast, bipolar and horizontal cells are normally generated

absent amacrine cells ( J:74573 )

• retinal explant cultures from double homozygotes exhibit complete loss of amacrine cells, in the absence of significant cell death

• notably, the total number of inner nuclear layer cells and ganglion cell layer cells remains unaffected

• evidence suggests that cells that fail to differentiate into amacrine cells adopt the ganglion and Muller glial cell fates

decreased retina photoreceptor cell number ( J:121047 )

• decrease is not greater than that in Neurod1^tm1Jle single homozygotes

increased retina ganglion cell number ( J:74573 )

• retinal explant cultures from double homozygotes show a significant increase in ganglion cells

• in addition, ectopic ganglion cells are found in the inner region of the INL of double mutant retina

abnormal optic nerve morphology ( J:74573 )

• at E17.5, optic nerves obtained from double homozygotes show a 1.7-fold increase in thickness relative to wild-type