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Phenotypes Associated with This Genotype
Genotype
MGI:6389105
Allelic
Composition
Rapsnem1Gan/Rapsnem1Gan
Genetic
Background
C57BL/6J-Rapsnem1Gan
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rapsnem1Gan mutation (0 available); any Rapsn mutation (22 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice die within 24 hours of birth with cyanosis

homeostasis/metabolism

nervous system
• axon terminals are extensively arborized, with increased numbers of secondary, tertiary, quaternary branches, in the diaphragm
• axon terminals show reduced number of synaptic vesicles
• 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
• 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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
05/10/2022
MGI 6.19
The Jackson Laboratory