Phenotypes associated with this allele

• Allele Symbol: Elp2^em3Bjw
• Allele Name: endonuclease-mediated mutation 3, Brandon J Wainwright
• Allele ID: MGI:6715581
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Elp2^em3Bjw/Elp2^em3Bjw	involves: C57BL/6	MGI:6754169
ht2	Elp2^em1Bjw/Elp2^em3Bjw	involves: C57BL/6	MGI:6754168
ht3	Elp2^em2Bjw/Elp2^em3Bjw	involves: C57BL/6	MGI:6754172
ht4	Elp2^em2Bjw/Elp2^em3Bjw	involves: C57BL/6 * DBA/2J	MGI:6754183

Genotype
MGI:6754169

hm1

• Allelic Composition: Elp2^em3Bjw/Elp2^em3Bjw
• Genetic Background: involves: C57BL/6

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:306113 )

• fewer than the expected numbers are seen at 9-10 dpc and no mutants are obtained at 14-15 dpc

growth/size/body

decreased embryo size ( J:306113 )

• embryos are smaller at E10.5

embryo

decreased embryo size ( J:306113 )

• embryos are smaller at E10.5

Genotype
MGI:6754168

ht2

• Allelic Composition: Elp2^em1Bjw/Elp2^em3Bjw
• Genetic Background: involves: C57BL/6

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:306113 )

• fewer than the expected numbers are seen at 9-10 dpc and no mutants are seen at 14-15 dpc

growth/size/body

decreased embryo size ( J:306113 )

• E9.5 embryos are smaller

embryo

decreased embryo size ( J:306113 )

• E9.5 embryos are smaller

Genotype
MGI:6754172

ht3

• Allelic Composition: Elp2^em2Bjw/Elp2^em3Bjw
• Genetic Background: involves: C57BL/6

mortality/aging

lethality during fetal growth through weaning, complete penetrance ( J:306113 )

• fewer than the expected numbers start to be seen at 16-17 dpc and 18.5 dpc, with no pups seen at weaning

growth/size/body

decreased fetal size ( J:306113 )

• fetuses are smaller at E14.5, E16.5, and E18.5

cardiovascular system

hemorrhage ( J:306113 )

• hemorrhaging is seen at 16.5 dpc and 18.5 dpc

Genotype
MGI:6754183

ht4

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

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