Phenotypes associated with this allele

• Allele Symbol: Vdac3^tm1Wjc
• Allele Name: targeted mutation 1, Willam J Craigen
• Allele ID: MGI:2182182
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Vdac3^tm1Wjc/Vdac3^tm1Wjc	Not Specified	MGI:2653759
cx2	Vdac1^tm1Wjc/Vdac1^tm1Wjc Vdac3^tm1Wjc/Vdac3^tm1Wjc	involves: 129S7/SvEvBrd	MGI:2653814

Genotype
MGI:2653759

hm1

• Allelic Composition: Vdac3^tm1Wjc/Vdac3^tm1Wjc
• Genetic Background: Not Specified

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

Structural abnormalities in sperm of Vdac3^tm1Wjc/Vdac3^tm1Wjc male mice

reproductive system

abnormal sperm axoneme morphology ( J:72188 )

♂ • 68% of epididymal sperm show structural aberrations with loss of axonemal doublet no. 7 and its associated outer dense fiber

♂ • less frequently, flagella lack half of the axonemal doublets, with ectopically placed doublets and partial axonemal duplications

♂ • flagella anomalies are rare in testicular sperm cells

abnormal sperm mitochondrial morphology ( J:72188 )

• spermatids in the testes show enlarged, abnormally shaped, and disordered mitochondria along the midpiece of the sperm flagellum

decreased sperm progressive motility ( J:72188 )

♂ • only 3% of motile sperm exhibit progression

asthenozoospermia ( J:72188 )

♂ • only 17% of sperm are motile compared to 70% in controls

male infertility ( J:72188 )

♂

respiratory system

abnormal tracheal ciliated epithelium morphology ( J:72188 )

• reduction in numbers of ciliated cells

• however, cilia have a normal 9+2 structural arrangement and normal ciliary movement is seen

muscle

abnormal skeletal muscle fiber mitochondrial morphology ( J:72188 )

• skeletal muscle contains unusually shaped mitochondria, with both variably enlarged sizes and extended intermyofibrillar growth

abnormal muscle physiology ( J:72188 )

• respiratory chain activity is abnormal is skeletal muscle, showing reductions in the activity of succinate-cytochrome c reductase, ubiquinol-cytochrome c reductase, and NADH oxidase

cellular

abnormal sperm axoneme morphology ( J:72188 )

♂ • 68% of epididymal sperm show structural aberrations with loss of axonemal doublet no. 7 and its associated outer dense fiber

♂ • less frequently, flagella lack half of the axonemal doublets, with ectopically placed doublets and partial axonemal duplications

♂ • flagella anomalies are rare in testicular sperm cells

abnormal sperm mitochondrial morphology ( J:72188 )

• spermatids in the testes show enlarged, abnormally shaped, and disordered mitochondria along the midpiece of the sperm flagellum

abnormal skeletal muscle fiber mitochondrial morphology ( J:72188 )

• skeletal muscle contains unusually shaped mitochondria, with both variably enlarged sizes and extended intermyofibrillar growth

decreased sperm progressive motility ( J:72188 )

♂ • only 3% of motile sperm exhibit progression

asthenozoospermia ( J:72188 )

♂ • only 17% of sperm are motile compared to 70% in controls

abnormal respiratory electron transport chain ( J:72188 )

• respiratory chain activity is abnormal is skeletal muscle, showing reductions in the activity of succinate-cytochrome c reductase, ubiquinol-cytochrome c reductase, and NADH oxidase

nervous system

decreased paired-pulse facilitation ( J:76838 )

• hippocampal slices show a significant reduction in paired-pulse facilitation when the two depolarizations are within 100 ms of each other

behavior/neurological

abnormal contextual conditioning behavior ( J:76838 )

• mutants exhibit reduced contextual freezing behavior when introduced to the training context 24 hours following training, indicating impaired contextual fear conditioning

abnormal cued conditioning behavior ( J:76838 )

• mutants exhibit reduced freezing behavior in response to an auditory cue in a novel context

Genotype
MGI:2653814

cx2

• Allelic Composition: Vdac1^tm1Wjc/Vdac1^tm1Wjc; Vdac3^tm1Wjc/Vdac3^tm1Wjc
• Genetic Background: involves: 129S7/SvEvBrd

mortality/aging

prenatal lethality, incomplete penetrance ( J:76838 )

• fewer than the expected numbers of double mutants are born; time of lethality not specified

growth/size/body

postnatal growth retardation ( J:76838 )

nervous system

reduced long-term potentiation ( J:76838 )

• long term potentiation, induced with two trains of 100 Hz for 1 s tetani separated by 20 s, is significantly impaired

decreased paired-pulse facilitation ( J:76838 )

• hippocampal slices show a significant reduction in paired-pulse facilitation when the two depolarizations are within 100 ms of each other

behavior/neurological

abnormal contextual conditioning behavior ( J:76838 )

• mutants exhibit reduced contextual freezing behavior when introduced to the training context 24 hours following training, indicating impaired contextual fear conditioning

abnormal cued conditioning behavior ( J:76838 )

• mutants exhibit reduced freezing behavior in response to an auditory cue in a novel context