About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:5648122
Allelic
Composition
Eml1heco/?
Genetic
Background
involves: CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Eml1heco mutation (1 available); any Eml1 mutation (26 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• at both early and late stages of corticogenesis, many actively dividing cells are abnormally positioned in the brain which is associated with increased cell death in cortices at E13
• fewer radial glial cells in mitosis are apparent at the ventricular lining
• misplaced progenitor cells in E13 brains, present outside the ventricular zones, continue to proliferate longer than wild-type cells
• total number of BrdU+ cells is greater and more cells remain in the cell cycle, particularly in the subventricular zone, intermediate zone and cortical plate
• mice exhibit early corticogenesis progenitor defects in the brain
• at P3, many Cux1+ neurons fail to reach cortical layers II-IV and are present in the heterotopia, however almost all Tbr1+ neurons have reached their final destination in layer VI above the heterotopia
• at P3, and to a lesser extent at P7, columns of Cux1+ neurons between the heterotopia and the cortex are still seen, whereas the migration of these neurons is already complete in wild-type mice, indicating a temporal delay in neurons reaching their destination
• however, neurons migrate at the same speed as wild-type neurons
• ectopic proliferation in the intermediate zone during corticogenesis
• many highly proliferating neuronal cells born at E15.5 remain blocked in the lower intermediate zone
• mice present subcortical heterotopia in the rostromedial part of the neocortex close to the hippocampus
• by E17, both early-born, Tbr1+ and late-born, Cux1+ neurons (apical progenitors) contribute to heterotopia formation and disorganized radial glial cell processes are seen throughout the heteropia
• however, accumulation of heterotopic neurons is not seen at E15

cellular
• most anaphase cells located at the ventricular lining show different cleavage orientations at E13 and E16 from the wild-type cells which show vertically oriented DNA, indicating abnormal spindle orientations
• at both early and late stages of corticogenesis, many actively dividing cells are abnormally positioned in the brain which is associated with increased cell death in cortices at E13
• fewer radial glial cells in mitosis are apparent at the ventricular lining
• misplaced progenitor cells in E13 brains, present outside the ventricular zones, continue to proliferate longer than wild-type cells
• total number of BrdU+ cells is greater and more cells remain in the cell cycle, particularly in the subventricular zone, intermediate zone and cortical plate

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
congenital nervous system abnormality DOID:2490 J:211342


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)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
01/12/2022
MGI 6.17
The Jackson Laboratory