Phenotypes associated with this allele

• Allele Symbol: Vapb^tm1.1Tsud
• Allele Name: targeted mutation 1.1, Hiroshi Tsuda
• Allele ID: MGI:5697413
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Vapb^tm1.1Tsud/Vapb^tm1.1Tsud	involves: 129S7/SvEvBrd	MGI:5697872
ht2	Vapb^tm1.1Tsud/Vapb^+	involves: 129S7/SvEvBrd	MGI:5697876

Genotype
MGI:5697872

hm1

• Allelic Composition: Vapb^tm1.1Tsud/Vapb^tm1.1Tsud
• Genetic Background: involves: 129S7/SvEvBrd

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

behavior/neurological

impaired coordination ( J:226459 )

• progressive decrease in latency to fall in inverted grid test beginning at 11 months of age; phenotype is more severe in homozygotes than in heterozygotes

• decrease in latency to fall in rotarod test beginning at 15 months of age

muscle

skeletal muscle fiber atrophy ( J:226459 )

• atrophic cells found in soleus muscle

centrally nucleated skeletal muscle fibers ( J:226459 )

• increased number of internal nuclei in muscle fibers

nervous system

abnormal synaptic bouton morphology ( J:226459 )

• increase in number of pre-synaptic boutons, although size of boutons is similar to controls

• homozygote phenotype is more severe than heterozygote phenotype

abnormal neuromuscular synapse morphology ( J:226459 )

• post-synaptic area of neuromuscular junction has a fragmented appearance; phenotype is more severe in homozygotes than in heterozygotes

• total endplate area is increased in size

neuronal cytoplasmic inclusions ( J:226459 )

• motor neurons of the spinal cord exhibit cytoplasmic inclusions containing ubiquitinated proteins at 6 months of age

• increased number of inclusions are observed in homozygous mice as compared to heterozygous mice

axon degeneration ( J:226459 )

• mice exhibit mild denervation of lower motor neurons

Genotype
MGI:5697876

ht2

• Allelic Composition: Vapb^tm1.1Tsud/Vapb⁺
• Genetic Background: involves: 129S7/SvEvBrd

behavior/neurological

impaired coordination ( J:226459 )

• progressive decrease in latency to fall in inverted grid test beginning at 11 month of age

• decrease in latency to fall in rotarod test beginning at 15 months of age

nervous system

abnormal synaptic bouton morphology ( J:226459 )

• increase in number of pre-synaptic boutons, although size of boutons is similar to controls

• homozygote phenotype is more severe than heterozygote phenotype

abnormal neuromuscular synapse morphology ( J:226459 )

• post-synaptic area of neuromuscular junction has a fragmented appearance; phenotype is less severe in heterozygotes than in homozygote

neuronal cytoplasmic inclusions ( J:226459 )

• motor neurons of the spinal cord exhibit cytoplasmic inclusions containing ubiquitinated proteins at 6 months of age

• fewer inclusions are observed in heterozygous mice as compared to homozygotes

axon degeneration ( J:226459 )

• mice exhibit mild denervation of lower motor neurons; phenotype is less severe in heterozygotes than in homozygote