Phenotypes Associated with This Genotype

Genotype
MGI:6389105

• Allelic Composition: Rapsn^em1Gan/Rapsn^em1Gan
• Genetic Background: C57BL/6J-Rapsn^em1Gan

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

mortality/aging

neonatal lethality, complete penetrance ( J:282816 )

• mice die within 24 hours of birth with cyanosis

homeostasis/metabolism

cyanosis ( J:282816 )

nervous system

abnormal synaptic bouton morphology ( J:282816 )

• axon terminals are extensively arborized, with increased numbers of secondary, tertiary, quaternary branches, in the diaphragm

• axon terminals show reduced number of synaptic vesicles

abnormal neuromuscular synapse morphology ( J:282816 )

• diaphragms from P0 mice show dramatically reduced number and size of acetyl choline receptor (AChR) clusters, with remaining clusters elongated instead of the oval plaque morphology in wild-type mice

• thigh muscles show reduced number of AChR clusters that appear thin

• aneural AChR clusters are rarely seen in E14 diaphragms (prior to innervation)

• synaptic clefts show fewer junctional folds on the postsynaptic side and the remainders are shorter

abnormal miniature endplate potential ( J:282816 )

• miniature endplate potentials (mEPP) are seen in about 13% of muscle fibers compared to about 88% in wild-type muscle fibers

• mEPP amplitudes and frequencies are reduced in muscle fibers

• however, resting membrane potentials are normal

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
congenital myasthenic syndrome 11		DOID:0110675	OMIM:616326	J:282816