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Phenotypes Associated with This Genotype
Genotype
MGI:6473560
Allelic
Composition
Eml1tm1.2Ics/Eml1tm1.2Ics
Genetic
Background
C57BL/6N-Eml1tm1.2Ics
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Eml1tm1.2Ics mutation (1 available); any Eml1 mutation (44 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• more than half of mice die on average from 9.4 to 11 weeks of age
• fewer than the expected (20% versus the expected 25%) mice are obtained at weaning

nervous system
• 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
• females exhibit less severe brain phenotypes than males
• the intermediate zone is decreased in size at E18.5
• the superficial cortical plate and the deep cortical plate area are reduced at E18.5
• areas of the ventricular and subventricular zones are smaller at E18.5
• hydrocephalus is visible at P13 and a subset of mice exhibit severe hydrocephalus
• enlargement of the lateral ventricles in 7-week old mice
• lateral ventricles are smaller at E18.5
• corpus callosum agenesis is seen in 7-week old mice
• 7-week old mice exhibit a smaller area of the anterior commissure
• - size of the anterior commissure appears smaller in E18.5 females
• height of the cingulate cortex is reduced at E18.5
• cell dispersion in the CA3 region of the hippocampus in 7-week old mice
• 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
• increase in area of the dorsal subiculum in 7-week old mice
• most parameters pertaining to the cortical wall (neuroepithelial ventricular zone, subventricular zone, intermediate zone, superficial cortical plate) appear decreased in size at E18.5
• the thickness of the homotopic cortex is reduced at P13 and 7-week old mice
• areas of the ventricular and subventricular zones are smaller at E18.5
• 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
• 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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory