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Phenotypes Associated with This Genotype
Genotype
MGI:6754173
Allelic
Composition
Elp2em2Bjw/Elp2em2Bjw
Genetic
Background
involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Elp2em2Bjw mutation (0 available); any Elp2 mutation (42 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

growth/size/body
• P21 mice exhibit a decrease in body weight
• brain to body weight ratio is decreased, indicating microcephaly
• P21 mice exhibit a decrease in body length
• developmental delay characterized by reduced body size and weight

behavior/neurological
• increase in self-grooming time and number of grooming bouts
• mice exhibit severe motor defects

nervous system
• anterior commissure volume is increased in P21-23 mice
• internal capsule volume is decreased in P21-23 mice
• basal forebrain septum volume is increased in P21-23 mice
• hypothalamus volume is increased in P21-23 mice
• neocortex volume is decreased in P21-23 mice

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