Phenotypes Associated with This Genotype

Genotype
MGI:6754183

• Allelic Composition: Elp2^em2Bjw/Elp2^em3Bjw
• Genetic Background: involves: C57BL/6 * DBA/2J

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

mortality/aging

premature death ( J:306113 )

• lifespan is to P60

growth/size/body

decreased body weight ( J:306113 )

microcephaly ( J:306113 )

• brain to body weight ratio is decreased, indicating microcephaly

decreased body length ( J:306113 )

behavior/neurological

increased grooming behavior ( J:306113 )

• mice show an increase in self-grooming time and number of self-grooming bouts

limb grasping ( J:306113 )

tremors ( J:306113 )

decreased grip strength ( J:306113 )

abnormal gait ( J:306113 )

• mice exhibit motor defects

decreased vocalization ( J:306113 )

• mice exhibit reduced number and duration of ultrasonic calls

nervous system

Purkinje cell degeneration ( J:306113 )

• Purkinje neuron degeneration in the cerebella

cerebellum atrophy ( J:306113 )

• cerebellar atrophy

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