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Phenotypes Associated with This Genotype
Genotype
MGI:2662570
Allelic
Composition
Chattm1Fhg/Chattm1Fhg
Genetic
Background
involves: 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chattm1Fhg mutation (0 available); any Chat mutation (19 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• death at birth, putatively due to an absence of synaptic transmission in the diaphragm muscle

behavior/neurological

growth/size/body
• reduced body length of fetus at E18.5

skeleton

nervous system
• increased nerve branching resulting in hyperinnervation throughout embryonic neuromuscular development
• abnormal morphology and patterning of neuromuscular synapses
• no neurotransmission at neuromuscular junction

reproductive system
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


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
02/16/2021
MGI 6.16
The Jackson Laboratory