Phenotypes Associated with This Genotype

Genotype
MGI:2176897

• Allelic Composition: Colq^tm1Jrs/Colq^tm1Jrs
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

Synapses in some Colq^tm1Jrs/Colq^tm1Jrs muscle appear immature or fragmented

mortality/aging

lethality at weaning, incomplete penetrance ( J:54006 )

• about half die at the time of weaning, P21

decreased survivor rate ( J:54006 )

• 10-20% of mutants survive to adulthood (>3 months)

premature death ( J:54006 )

• about 2/3 of mice that survive to weaning die over the next few weeks

growth/size/body

decreased body size ( J:54006 )

postnatal growth retardation ( J:54006 )

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

behavior/neurological

tremors ( J:54006 )

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

nervous system

abnormal neuromuscular synapse morphology ( J:54006 )

• 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