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Phenotypes Associated with This Genotype
Genotype
MGI:5560741
Allelic
Composition
Eml1heco/Eml1heco
Genetic
Background
involves: NOR
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
behavior/neurological
• mice exhibit lower performance during task acquisition in the automated radial maze and increased errors in reaching the platform in a Morris water maze test at 7 months compared with wild-type mice
• one-day delay in development
• slower development of locomotion
• delayed geotaxis reflexes
• brady- and hypokinesia in severely affected mice
• decreased activity in a Y-maze only at 2 months
• 3 of 23 mice exhibit spontaneous seizures similar to pilocarpine-induced seizures
• spontaneous myoclonic jerks associated with interrupted exploratory behavior at 4 to 5 weeks
• however, no epileptic seizures are observed at 8 to 12 weeks

nervous system
N
• mice exhibit normal afferent connections
• 3 of 23 mice exhibit spontaneous seizures similar to pilocarpine-induced seizures
• spontaneous myoclonic jerks associated with interrupted exploratory behavior at 4 to 5 weeks
• however, no epileptic seizures are observed at 8 to 12 weeks
• increased thickness at E17
• discrete ventricular enlargement
• huge ventricular enlargement in severely affected mice
• in heterotropia cortex layer II/III compared with homotopic areas
• lateral cortical atrophy in severely affected mice
• cortical heterotopia
• bilateral subcortical band heterotropia beneath the medial neocortex and extending from the frontal lobe to the occipital lobe
• variable severity

growth/size/body
• in severely affected mice
• in severely affected mice

craniofacial
• in severely affected mice

integument

muscle
• spontaneous myoclonic jerks associated with interrupted exploratory behavior at 4 to 5 weeks
• however, no epileptic seizures are observed at 8 to 12 weeks

skeleton
• in severely affected mice

vision/eye

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
congenital nervous system abnormality DOID:2490 J:208031


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
01/12/2022
MGI 6.17
The Jackson Laboratory