Phenotypes associated with this allele

• Allele Symbol: Stxbp1^tm1Sud
• Allele Name: targeted mutation 1, Thomas C Sudhoff
• Allele ID: MGI:2183278
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Stxbp1^tm1Sud/Stxbp1^tm1Sud	Not Specified	MGI:3033207

Genotype
MGI:3033207

hm1

• Allelic Composition: Stxbp1^tm1Sud/Stxbp1^tm1Sud
• Genetic Background: Not Specified

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

mortality/aging

neonatal lethality, complete penetrance ( J:77237 )

• animals die at birth, probably due to an inability to breathe

nervous system

nervous system phenotype ( J:77237 )

N • homozygous mice exhibited normal brain development and initial formation of synaptic connections

neurodegeneration ( J:77237 )

• apoptotic death of mature neurons was noted starting in the lower brainstem and later in the midbrain and basal forebrain

neuron degeneration ( J:100337 )

• loss of neurons in culture between 3 and 7 DIV without improvement when cultured with wild-type neurons or application of insulin or BDNF

• however, degeneration is delayed by culturing on glial cells and organoculture with wild-type slices of the hippocampus

axon degeneration ( J:85723 )

• degeneration of the phrenic nerve was noted in homozygous mice; the phrenic nerve initially innervated the diaphragm and the neuromuscular synapse formed normally at E14 -E15, but then degenerated and disappeared by E18

abnormal synaptic transmission ( J:77237 )

• no synaptic activity was detectable in embryonic stages in homozygous mice; however, postsynaptic receptors were functional and spontaneous action potentials were observed

abnormal neurotransmitter secretion ( J:77237 , J:100337 )

• complete loss of neurotransmitter secretion from synaptic vesicles during development (J:77237)

• cultured neurons lack neurotransmitter synaptic vesicle secretion unlike wild-type cells (J:100337)