Phenotypes Associated with This Genotype

Genotype
MGI:6754173

• Allelic Composition: Elp2^em2Bjw/Elp2^em2Bjw
• Genetic Background: involves: C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

lethality at weaning, complete penetrance ( J:306113 )

• lethality around P21

growth/size/body

decreased body weight ( J:306113 )

• P21 mice exhibit a decrease in body weight

microcephaly ( J:306113 )

• brain to body weight ratio is decreased, indicating microcephaly

decreased body length ( J:306113 )

• P21 mice exhibit a decrease in body length

postnatal growth retardation ( J:306113 )

• developmental delay characterized by reduced body size and weight

behavior/neurological

increased grooming behavior ( J:306113 )

• increase in self-grooming time and number of grooming bouts

limb grasping ( J:306113 )

tremors ( J:306113 )

decreased grip strength ( J:306113 )

abnormal gait ( J:306113 )

• mice exhibit severe motor defects

nervous system

abnormal anterior commissure morphology ( J:306113 )

• anterior commissure volume is increased in P21-23 mice

abnormal brain internal capsule morphology ( J:306113 )

• internal capsule volume is decreased in P21-23 mice

abnormal forebrain morphology ( J:306113 )

• basal forebrain septum volume is increased in P21-23 mice

abnormal hypothalamus morphology ( J:306113 )

• hypothalamus volume is increased in P21-23 mice

decreased neocortex volume ( J:306113 )

• neocortex volume is decreased in P21-23 mice

muscle

hypotonia ( J:306113 )

• 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