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Phenotypes Associated with This Genotype
Genotype
MGI:2176897
Allelic
Composition
Colqtm1Jrs/Colqtm1Jrs
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Colqtm1Jrs mutation (0 available); any Colq mutation (27 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Synapses in some Colqtm1Jrs/Colqtm1Jrs muscle appear immature or fragmented

mortality/aging
• about half die at the time of weaning, P21
• 10-20% of mutants survive to adulthood (>3 months)
• about 2/3 of mice that survive to weaning die over the next few weeks

growth/size/body
• mutants grow slower than control littermates and fail to thrive, although the remain active and responsive

behavior/neurological
• mutants develop a tremor when moving, starting at P5, that persists throughout life

nervous system
• mutants lack asymmetric acetylcholinesterase in skeletal neuromuscular junction synapses and in the heart and brain and the asymmetric forms of the acetylcholinesterase homologue, butyrylcholinesterase
• mutants lack globular acetylcholinesterase in skeletal muscle
• neuromuscular junction synapse structure is abnormal; approximately 40% of synaptic sites are smaller but normal in appearance, 20% remain immature, and 40% appear fragmented
• cytoplasm beneath the postsynaptic membrane often has holes, indicating localized subsynaptic necrosis; incidence is higher at P20 (2/3 of synapses show necrosis) than at 6 months (less than 5% show necrosis)
• nerve terminals sometimes are partially enwrapped by processes of Schwann cells; incidence is higher at 6 months of age (more than half) than at P20 (1/3)

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
congenital myasthenic syndrome 5 DOID:0110667 OMIM:603034
J:54006


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
03/12/2024
MGI 6.23
The Jackson Laboratory