Phenotypes Associated with This Genotype

Genotype
MGI:2662570

• Allelic Composition: Chat^tm1Fhg/Chat^tm1Fhg
• Genetic Background: involves: 129S2/SvPas * C57BL/6

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

mortality/aging

perinatal lethality, complete penetrance ( J:81738 )

• death at birth, putatively due to an absence of synaptic transmission in the diaphragm muscle

behavior/neurological

carpoptosis ( J:81738 )

growth/size/body

decreased fetal size ( J:81738 )

• reduced body length of fetus at E18.5

skeleton

kyphosis ( J:81738 )

nervous system

abnormal innervation ( J:81738 )

• increased nerve branching resulting in hyperinnervation throughout embryonic neuromuscular development

increased motor neuron number ( J:81738 )

abnormal neuromuscular synapse morphology ( J:81738 )

• abnormal morphology and patterning of neuromuscular synapses

abnormal PNS synaptic transmission ( J:81738 )

• no neurotransmission at neuromuscular junction

reproductive system

reproductive system phenotype ( J:113236 )

N • at E18, mutant ovaries show no differences in size and cellular composition relative to age-matched wild-type ovaries, suggesting normal ovarian and follicular development

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
congenital myasthenic syndrome 6		DOID:0110671	OMIM:254210	J:81738