Phenotypes Associated with This Genotype

Genotype
MGI:6473560

• Allelic Composition: Eml1^tm1.2Ics/Eml1^tm1.2Ics
• Genetic Background: C57BL/6N-Eml1^tm1.2Ics

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

mortality/aging

premature death ( J:294769 )

• more than half of mice die on average from 9.4 to 11 weeks of age

preweaning lethality, incomplete penetrance ( J:294769 )

• fewer than the expected (20% versus the expected 25%) mice are obtained at weaning

nervous system

abnormal neuronal precursor proliferation ( J:294769 )

• mice show an increase in the percentage of Ki67+BrdU+ cells present in the cortical subventricular zone/intermediate zone/superficial cortical plate and in the apical-most cortical neuroepithelial ventricular zone and a decrease in the percentage of these cells in the most basal regions of the cortical neuroepithelial ventricular zone indicating aberrantly positioned cycling neuronal progenitors in cortices

abnormal brain morphology ( J:294769 )

• females exhibit less severe brain phenotypes than males

abnormal cortical intermediate zone morphology ( J:294769 )

• the intermediate zone is decreased in size at E18.5

abnormal cortical plate morphology ( J:294769 )

• the superficial cortical plate and the deep cortical plate area are reduced at E18.5

abnormal cortical ventricular zone morphology ( J:294769 )

• areas of the ventricular and subventricular zones are smaller at E18.5

hydrocephaly ( J:294769 )

• hydrocephalus is visible at P13 and a subset of mice exhibit severe hydrocephalus

enlarged lateral ventricles ( J:294769 )

• enlargement of the lateral ventricles in 7-week old mice

small lateral ventricles ( J:294769 )

• lateral ventricles are smaller at E18.5

absent corpus callosum ( J:294769 )

• corpus callosum agenesis is seen in 7-week old mice

decreased anterior commissure size ( J:294769 )

• 7-week old mice exhibit a smaller area of the anterior commissure

• - size of the anterior commissure appears smaller in E18.5 females

decreased cingulate cortex size ( J:294769 )

• height of the cingulate cortex is reduced at E18.5

abnormal hippocampus CA3 region morphology ( J:294769 )

• cell dispersion in the CA3 region of the hippocampus in 7-week old mice

abnormal hippocampus pyramidal cell layer ( J:294769 )

• enlarged area of the hippocampal pyramidal cells layer in 7-week old mice

• length of the pyramidal layer of the hippocampus is enlarged by 28.1% in males at E18.5

abnormal dorsal subiculum morphology ( J:294769 )

• increase in area of the dorsal subiculum in 7-week old mice

abnormal cerebral cortex morphology ( J:294769 )

• most parameters pertaining to the cortical wall (neuroepithelial ventricular zone, subventricular zone, intermediate zone, superficial cortical plate) appear decreased in size at E18.5

thin cerebral cortex ( J:294769 )

• the thickness of the homotopic cortex is reduced at P13 and 7-week old mice

abnormal embryonic/fetal subventricular zone morphology ( J:294769 )

• areas of the ventricular and subventricular zones are smaller at E18.5

ectopic neuron ( J:294769 )

• underneath a homotopic thinner cortex a massive heterotopia surrounded by fiber tracts forms a double cortex indicating severe cortical heterotopia in 7-week old mice

• the neocortex contains a massive subcortical band heterotopia already at E18.5

• cortical heterotopia is associated with corpus callosum agenesis and hippocampal defects but not with hydrocephalus

cellular

abnormal neuronal precursor proliferation ( J:294769 )

• mice show an increase in the percentage of Ki67+BrdU+ cells present in the cortical subventricular zone/intermediate zone/superficial cortical plate and in the apical-most cortical neuroepithelial ventricular zone and a decrease in the percentage of these cells in the most basal regions of the cortical neuroepithelial ventricular zone indicating aberrantly positioned cycling neuronal progenitors in cortices

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
subcortical band heterotopia		DOID:0111169	OMIM:600348	J:294769