Phenotypes associated with this allele

• Allele Symbol: Eef1d^tm1.2Mkma
• Allele Name: targeted mutation 1.2, Masayuki Matsushita
• Allele ID: MGI:6467473
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Eef1d^tm1.2Mkma/Eef1d^tm1.2Mkma	B6J.B6N(Cg)-Eef1d^tm1.2Mkma	MGI:6468486

Genotype
MGI:6468486

hm1

• Allelic Composition: Eef1d^tm1.2Mkma/Eef1d^tm1.2Mkma
• Genetic Background: B6J.B6N(Cg)-Eef1d^tm1.2Mkma

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

mortality/aging

premature death ( J:288930 )

• surprisingly, several mice die after exposure to a 90-dB loud sound due to seizures followed by suffocation

behavior/neurological

behavior/neurological phenotype ( J:288930 )

N • prior to the fear conditioning test, mice show no differences in spontaneous locomotor activity (open-field test), anxiety-related behavior (open-field and elevated plus maze test), or spatial working memory (Y-maze test) relative to wild-type controls

abnormal cued conditioning behavior ( J:288930 )

• in the fear conditioning test, mice show only slight differences in the percent of time spent freezing at cued testing relative to wild-type controls

• however, no differences are observed at conditioning or contextual testing

increased anxiety-related response ( J:288930 )

• after exposure to aversive stimuli given during the fear conditioning test, mice spend significantly less time in the open arms of the elevated plus maze test than wild-type controls, suggesting increased anxiety-related behavior

decreased locomotor activity ( J:288930 )

• after exposure to aversive stimuli given during the fear conditioning test, mice show significantly decreased locomotor activity in their home cage and in the open-field and elevated plus-maze tests, regardless of seizure manifestation

decreased aerobic running capacity ( J:288930 )

• after the fear conditioning test, mice receive a significantly higher number of electric shocks than wild-type controls in a modified treadmill test, indicating that their running ability is impaired

audiogenic seizures ( J:288930 )

• 3 of 11 mice (45%) show a score of 2 (wild running followed by clonic seizures and/or tonic flexion and extension) in response to auditory cues (90 dBA) alone

tonic-clonic seizures ( J:288930 )

• surprisingly, 5 of 14 mice (36%) show a score of 2 (wild running followed by clonic seizures and/or tonic flexion and extension) in response to stimulation consisting of a mild foot shock (0.3 mA) and an auditory cue (90 dBA) at the conditioning trial of the fear conditioning test

nervous system

audiogenic seizures ( J:288930 )

• 3 of 11 mice (45%) show a score of 2 (wild running followed by clonic seizures and/or tonic flexion and extension) in response to auditory cues (90 dBA) alone

tonic-clonic seizures ( J:288930 )

• surprisingly, 5 of 14 mice (36%) show a score of 2 (wild running followed by clonic seizures and/or tonic flexion and extension) in response to stimulation consisting of a mild foot shock (0.3 mA) and an auditory cue (90 dBA) at the conditioning trial of the fear conditioning test

decreased brain weight ( J:288930 )

• after the fear conditioning test, brain weight is significantly lower than that in wild-type controls

• however, no changes in brain weight are observed in naive mice

midbrain atrophy ( J:288930 )

• after the fear conditioning test, mice show atrophy of the midbrain

hippocampus atrophy ( J:288930 )

• after the fear conditioning test, mice show atrophy of the hippocampus

thin cerebral cortex ( J:288930 )

• after the fear conditioning test, mice show a reduced thickness of the cortical layer

homeostasis/metabolism

decreased aerobic running capacity ( J:288930 )

• after the fear conditioning test, mice receive a significantly higher number of electric shocks than wild-type controls in a modified treadmill test, indicating that their running ability is impaired

abnormal translation ( J:288930 )

• in culture, primary hippocampal neurons obtained from E17 fetuses show augmented basal protein synthesis levels relative to wild-type neurons

cellular

increased endoplasmic reticulum stress ( J:288930 )

• mice show induction of endoplasmic reticulum (ER) stress markers in the hippocampus

abnormal translation ( J:288930 )

• in culture, primary hippocampal neurons obtained from E17 fetuses show augmented basal protein synthesis levels relative to wild-type neurons

reproductive system

reproductive system phenotype ( J:288930 )

N • although expression of the long isoform is normally detected in the wild-type testis, both male and female mice are fertile