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Phenotypes Associated with This Genotype
Genotype
MGI:6754183
Allelic
Composition
Elp2em2Bjw/Elp2em3Bjw
Genetic
Background
involves: C57BL/6 * DBA/2J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Elp2em2Bjw mutation (0 available); any Elp2 mutation (42 available)
Elp2em3Bjw mutation (0 available); any Elp2 mutation (42 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• lifespan is to P60

growth/size/body
• brain to body weight ratio is decreased, indicating microcephaly

behavior/neurological
• mice show an increase in self-grooming time and number of self-grooming bouts
• mice exhibit motor defects
• mice exhibit reduced number and duration of ultrasonic calls

nervous system
• Purkinje neuron degeneration in the cerebella
• cerebellar atrophy

muscle
• decrease in limb tone

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
autism spectrum disorder DOID:0060041 J:306113
intellectual disability DOID:1059 J:306113


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
06/12/2024
MGI 6.13
The Jackson Laboratory