Phenotypes associated with this allele

• Allele Symbol: Nr2e1^tm1Rtyu
• Allele Name: targeted mutation 1, Ruth T Yu
• Allele ID: MGI:2176560
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Nr2e1^tm1Rtyu/Nr2e1^tm1Rtyu	Not Specified	MGI:2653315
ht2	Nr2e1^tm1Rev/Nr2e1^tm1Rtyu	Not Specified	MGI:3777340

Genotype
MGI:2653315

hm1

• Allelic Composition: Nr2e1^tm1Rtyu/Nr2e1^tm1Rtyu
• Genetic Background: Not Specified

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

nervous system

abnormal axon fasciculation ( J:81762 )

• nestin-positive radial glial fibers in the pallio-subpallial boundary do not fasciculate to form the palisade

decreased radial glial cell number ( J:81762 )

• mutants exhibit fewer nestin-positive radial glial fibers in the region of the pallio-subpallial boundary

abnormal telencephalon development ( J:81762 )

• defects in the patterning of the lateral telencephalon with altered gene expression at the pallio-subpallial boundary at E14.5

abnormal pallium development ( J:81762 )

• misspecification of the ventral pallium

abnormal amygdala morphology ( J:81762 )

• maker analysis indicates abnormal development of the basolateral and lateral amygdala

abnormal lateral ganglionic eminence morphology ( J:81762 )

• lateral ganglionic eminence is significantly reduced in size by E14.5 and there is a dorsal shift in the subventricular zone and mantle markers

absent photoreceptor outer segment ( J:61179 )

• outer segment layer is often missing

abnormal optic nerve morphology ( J:61179 )

• optic nerve is reduced in diameter with an average 6-fold reduction in cross-sectional area

optic nerve degeneration ( J:61179 )

vision/eye

abnormal optic nerve morphology ( J:61179 )

• optic nerve is reduced in diameter with an average 6-fold reduction in cross-sectional area

optic nerve degeneration ( J:61179 )

abnormal optic stalk morphology ( J:61179 )

abnormal retina morphology ( J:61179 )

absent photoreceptor outer segment ( J:61179 )

• outer segment layer is often missing

abnormal retina ganglion layer morphology ( J:61179 )

• hypocellularity of the ganglion layer

disorganized retina ganglion layer ( J:61179 )

abnormal retina inner nuclear layer morphology ( J:61179 )

• hypocellularity of the inner nuclear layer

disorganized retina inner nuclear layer ( J:61179 )

abnormal retina outer nuclear layer morphology ( J:61179 )

• hypocellularity of the outer nuclear layer

disorganized retina outer nuclear layer ( J:61179 )

abnormal retina outer plexiform layer morphology ( J:61179 )

• outer plexiform layer is often missing

increased susceptibility to age-related retinal degeneration ( J:61179 )

• patchy pattern of progressive retinal degeneration first detected by 3 weeks of age

abnormal eye electrophysiology ( J:61179 )

• abnormal electroretinograms: waves corresponding to the responses for photoreceptor, Muller, bipolar, and amacrine cells are absent in 3 month old mutants

blindness ( J:61179 )

• mutants show a nearly complete lack of response to light stimuli

cellular

abnormal axon fasciculation ( J:81762 )

• nestin-positive radial glial fibers in the pallio-subpallial boundary do not fasciculate to form the palisade

decreased radial glial cell number ( J:81762 )

• mutants exhibit fewer nestin-positive radial glial fibers in the region of the pallio-subpallial boundary

Genotype
MGI:3777340

ht2

• Allelic Composition: Nr2e1^tm1Rev/Nr2e1^tm1Rtyu
• Genetic Background: Not Specified

nervous system

abnormal neuron differentiation ( J:132664 )

• isolated neural stem cells infected with a cre-expressing virus display an 80% reduction in proliferation

cellular

abnormal neuron differentiation ( J:132664 )

• isolated neural stem cells infected with a cre-expressing virus display an 80% reduction in proliferation