Phenotypes Associated with This Genotype

Genotype
MGI:4367610

• Allelic Composition: Chat/Slc18a3^tm1.1Vpra/Chat/Slc18a3^tm1.1Vpra
• Genetic Background: involves: 129S4/SvJae * C57BL/6J

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

mortality/aging

neonatal lethality, complete penetrance ( J:153908 )

• die rapidly with cyanosis within 2 to 5 min after birth

homeostasis/metabolism

cyanosis ( J:153908 )

• die rapidly with cyanosis within 2 to 5 min after birth

increased acetylcholine level ( J:153908 )

• increased intracellular acetylcholine level in the brains of E18.5 mutant mice (>5 fold)

nervous system

abnormal motor neuron innervation pattern ( J:153908 )

• significant increase in the number of nerve terminals in hemidiaphragms

• increased average area of single nerve terminals in mouse hemidiaphragms

• increase in axonal sprouting and branching in diaphragms increase in axonal sprouting and branching in diaphragms increase in axonal sprouting and branching in diaphragms

increased motor neuron number ( J:153908 )

• significant increase in the number of lumbar motor neurons (36%) at E18.5

abnormal neuromuscular synapse morphology ( J:153908 )

• clusters of nicotinic acetylcholine receptor (nAChR) with stronger labeling and a larger area in neuromuscular junctions at E18.5

abnormal miniature endplate potential ( J:153908 )

• scarce miniature end-plate potentials (MEPPs) in the neuromuscular junction (NMJ) from E18.5

• small-amplitude MEPPs in the neuromuscular junction (NMJ) from E18.5

• d-tubocurarine (5 uM) treatment abolishes miniature detection in both mutant and wild type mice

abnormal synaptic acetylcholine release ( J:153908 )

• KCl-depolarization-evoked acetylcholine (Ach) release is hindered at E18.5

muscle

abnormal skeletal muscle morphology ( J:153908 )

• complete loss of normal architecture in mutant muscles in some cases

skeletal muscle atrophy ( J:153908 )

• skeletal muscles show marked atrophy

skeletal muscle fiber atrophy ( J:153908 )

• myofibrilar tissue is replaced with fragmented myofibrils

• degenerated myofibrils were replaced with fibrotic and fatty tissue

hypotonia ( J:153908 )

• flaccid limbs as shown at E18.5

skeleton

kyphosis ( J:153908 )

• slight kyphosis as shown at E18.5