Phenotypes associated with this allele

• Allele Symbol: Eef1a2^em#Abb
• Allele Name: endonuclease-mediated mutation, Catherine M Abbott
• Allele ID: MGI:7277680
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Eef1a2^em#Abb/Eef1a2^em#Abb	C57BL/6JCrl-Eef1a2^em#Abb	MGI:7277686
ht2	Eef1a2^em#Abb/Eef1a2^+	C57BL/6JCrl-Eef1a2^em#Abb	MGI:7277684

Genotype
MGI:7277686

hm1

• Allelic Composition: Eef1a2^em#Abb/Eef1a2^em#Abb
• Genetic Background: C57BL/6JCrl-Eef1a2^em#Abb

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

mortality/aging

premature death ( J:296080 )

• mice die before they are old enough to be tested on the rotarod

growth/size/body

decreased body weight ( J:296080 )

• weight gain between P14 and P22 is attenuated

• males weigh less than Eef1a2^em1Abb homozygous males at 15 days of age, and fail to gain weight thereafter

behavior/neurological

abnormal behavior ( J:296080 )

• mice show worse neuroscores (consisting of the severity of impairment on ledge walking, hindlimb clasping, gait and kyphosis) than wild-type mice or null Eef1a2^em1Abb mice and this neurological dysfunction worsens progressively from 16-23 days

nervous system

gliosis ( J:296080 )

• increase in GFAP expression in spinal cord indicating gliosis

abnormal spinal cord morphology ( J:296080 )

• spinal cord shows abnormal pathology, including loss of normal nuclear structure with apparent loss of nuclear membrane leading to neuronal death in anterior horn motor neurons

neurodegeneration ( J:296080 )

• spinal cord shows neuronal death in anterior horn motor neurons

Genotype
MGI:7277684

ht2

• Allelic Composition: Eef1a2^em#Abb/Eef1a2⁺
• Genetic Background: C57BL/6JCrl-Eef1a2^em#Abb

growth/size/body

decreased body weight ( J:296080 )

• mice consistently weigh approximately 10% less than wild-type mice from P14 to P21

• males weigh 5% less and females weigh 10% less than wild-type mice at 2 months of age

• however, no reductions in head size nor gross brain morphology are seen

behavior/neurological

abnormal behavior ( J:296080 )

• mice show marginally but significantly worse neuroscores (consisting of the severity of impairment on ledge walking, hindlimb clasping, gait and kyphosis) between P16 and P23, indicating a small, but detectable, neurological deficit in young mice which resolves with age

• however, males do not show anxiety, hyperactivity, differences in sociability, spatial memory or repetitive behaviors: females were not tested due to motor deficiency

impaired coordination ( J:296080 )

♀ • adult females, but not males, show worse performance on the rotarod than controls

decreased grip strength ( J:296080 )

• females show reduced forelimb-only grip strength while both males and females have impaired all-limb grip strength at P22, however 8-week-old mice have normal grip strength

muscle

decreased skeletal muscle mass ( J:296080 )

♀ • females, but not males, exhibit a reduced muscle to body mass ratio; muscle weights of females are 79% those of wild-type mice, whereas total body weights are 90% of wild-type

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal dominant intellectual developmental disorder 38		DOID:0070068	OMIM:616393	J:296080