Phenotypes associated with this allele

• Allele Symbol: Nde1^tm1Caw
• Allele Name: targeted mutation 1, Christopher A Walsh
• Allele ID: MGI:3514026
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Nde1^tm1Caw/Nde1^tm1Caw	involves: 129S4/SvJae * Black Swiss	MGI:3514153
cx2	Nde1^tm1Caw/Nde1^tm1Caw Pafah1b1^tm1Awb/Pafah1b1^+	involves: 129S4/SvJae * 129S6/SvEvTac	MGI:5515910

Genotype
MGI:3514153

hm1

• Allelic Composition: Nde1^tm1Caw/Nde1^tm1Caw
• Genetic Background: involves: 129S4/SvJae * Black Swiss

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

nervous system

abnormal neuron differentiation ( J:94756 )

• progressive decrease in cortical progenitor cell proliferation

• altered neuronal cell fate with more neural progenitor cells adapting a neuronal fate between E14.5-E15.5, leading to an increase in deeper layer neurons

• 1.8 fold increase in mitotic cells in the cortical ventricular zone at E15

• altered mitotic orientation (reduction in symmetrical cell division and increase in asymmetrical cell division) and mispositioned mitotic chromosomes in neural progenitor cells

abnormal neuronal migration ( J:94756 )

• cerebral cortex neurons at E15 and E17 showed a reduced distance of migration and a more scattered distribution

decreased brain size ( J:94756 )

• brain was 1/3 smaller at 6-8 weeks of age with small size observed from birth throughout adult life

decreased brain weight ( J:94756 )

• the weight of the anterior forebrain was reduced much more than the posterior midbrain and cerebellum

abnormal cerebral cortex morphology ( J:94756 )

• thinner cerebral cortex showing a pronounced thinning in the superficial cortical layers

loss of cortex neurons ( J:94756 )

• severe reduction in later-born superficial cortical neurons (neurons in layers II/III to IV)

cellular

abnormal neuron differentiation ( J:94756 )

• progressive decrease in cortical progenitor cell proliferation

• altered neuronal cell fate with more neural progenitor cells adapting a neuronal fate between E14.5-E15.5, leading to an increase in deeper layer neurons

• 1.8 fold increase in mitotic cells in the cortical ventricular zone at E15

• altered mitotic orientation (reduction in symmetrical cell division and increase in asymmetrical cell division) and mispositioned mitotic chromosomes in neural progenitor cells

abnormal neuronal migration ( J:94756 )

• cerebral cortex neurons at E15 and E17 showed a reduced distance of migration and a more scattered distribution

Genotype
MGI:5515910

cx2

• Allelic Composition: Nde1^tm1Caw/Nde1^tm1Caw; Pafah1b1^tm1Awb/Pafah1b1⁺
• Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac

nervous system

nervous system phenotype ( J:197131 )

N • normal size and shape of dorsal root ganglia

abnormal roof plate morphology ( J:197131 )

• expanded roof plate

• cells continue to divide through E13

choroid plexus hyperplasia ( J:197131 )

• massive expansion of choroid plexus epithelium cells

decreased neuron number ( J:197131 )

• profound loss of neocortical neurons

• extensive loss of neurons in the dorsal spinal cord

abnormal spinal cord morphology ( J:197131 )

abnormal dorsal interneuron morphology ( J:197131 )

• large number of dorsal sensory interneurons are missing

abnormal spinal cord dorsal horn morphology ( J:197131 )

• near complete loss of dorsal sensory interneurons with only modest losses in the ventral spinal cord

• dorsal progenitors are greatly reduced distal to the roof plate

abnormal spinal cord ventral horn morphology ( J:197131 )

• ventral spinal cord patterning and dorsal most domain of the ventral spinal cord are only modestly affected

embryo

abnormal roof plate morphology ( J:197131 )

• expanded roof plate

• cells continue to divide through E13