Phenotypes Associated with This Genotype

Genotype
MGI:3046097

• Allelic Composition: Chat^tm1.1Jrs/Chat^tm1.1Jrs
• Genetic Background: Not Specified

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

mortality/aging

neonatal lethality, complete penetrance ( J:91066 )

• homozygous pups die at birth without ever moving

behavior/neurological

carpoptosis ( J:91066 )

• at birth mutants display palmar flexion of the front paws characteristic of flaccid paralysis

muscle

abnormal muscle morphology ( J:91066 )

• at E13.5 muscles are thinner compared to littermate controls

• at E13.5 the number of acetylcholine receptor clusters rich processes extending from myotubes is increased and some of these processes are longer and more branched, however myotubes appear normal by E15 ? E16

diaphragmatic hernia ( J:91066 )

• at E16 the liver has herniated through the tendinous center of the diaphragm in greater than 85% of mutants

thin diaphragm muscle ( J:91066 )

• at E13.5 fewer fibers are seen in the diaphragm and by E17.5 degenerating myotubes are seen interspersed with viable myotubes

skeleton

kyphosis ( J:91066 )

• at birth pups have a hunched back

nervous system

abnormal Schwann cell morphology ( J:91066 )

• the number of Schwann cells is also increased in mutant nerves

abnormal innervation pattern to muscle ( J:91066 )

• the number of axons entering individual endplates and the number sprouting beyond the endplate is increased in mutants

• many myotubes are innervated at multiple sites

increased motor neuron number ( J:91066 )

• the number of motorneurons is increased by 79% in mutants

abnormal neuromuscular synapse morphology ( J:91066 )

• increased branching of intramuscular nerves is accompanied by altered synapses in which the endplate band is twice as wide as normal

• the number of junctional folds is decreased by about 60% in mutants

• the density of acetylcholine receptor clusters is decreased however the size of the clusters was increased by 89% and 69% at E17.5 and E19, respectively

abnormal phrenic nerve morphology ( J:91066 )

• the diameter of the phrenic nerve is increased in mutants by E13.5

• the number of axons in the phrenic nerve is more than double that in littermate controls

• beginning at E13 in the intramuscular portion of the nerve there is a dramatic excess of secondary branching resulting in the nerve covering more of the muscle's width

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
congenital myasthenic syndrome 6		DOID:0110671	OMIM:254210	J:91066