Phenotypes associated with this allele

• Allele Symbol: Tg(Ckm-Chrnd*S262T)40Cgz
• Allele Name: transgene insertion 40, Christopher Gomez
• Allele ID: MGI:5694343
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
tg1	Tg(Ckm-Chrnd*S262T)40Cgz/0	involves: C57BL/6 * DBA/2	MGI:5694344

Genotype
MGI:5694344

tg1

• Allelic Composition: Tg(Ckm-Chrnd*S262T)40Cgz/0
• Genetic Background: involves: C57BL/6 * DBA/2

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

nervous system

abnormal action potential ( J:31221 )

• while evoked compound muscle action potentials (CMAPs) are always single responses in controls, single nerve stimuli result in repetitive CMAPs in mutants; in about half the mice a total of three action potentials are seen

abnormal PNS synaptic transmission ( J:31221 )

• mice show increased sensitivity to the neuromuscular blocker curare, developing marked decremental responses to repetitive stimulation at both 5 and 10 Hz compared to controls which show an average decrement of less than 1%

abnormal endplate potential ( J:31221 )

• the mean time constant of decay of end-plate currents (EPCs) evoked by phrenic nerve stimulation is about 3-fold prolonged compared to controls

abnormal miniature endplate potential ( J:31221 )

• miniature end-plate currents (MEPCs) have prolonged decay phases

• a greater proportion (25% vs 6%) of MEPCs have bi-exponential decays than in controls indicating increased duration of synaptic currents

• the mean MEPC amplitudes are reduced by a mean of 33%

muscle

muscle phenotype ( J:31221 )

N • muscle fibers, end-plates, nerve terminals and terminal arbors appear normal

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
congenital myasthenic syndrome 3A		DOID:0110666	OMIM:616321	J:31221