Phenotypes Associated with This Genotype

Genotype
MGI:3769001

• Allelic Composition: Chrnb1^tm1Sjb/Chrnb1^tm1Sjb
• Genetic Background: Not Specified

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

nervous system

abnormal neuromuscular synapse morphology ( J:128926 )

• at P0, neuromuscular synapses are reduced in size by 30% in mutant mice, but synaptic density is unaffected

• at P30, neuromuscular synapses are reduced in size by 40% in mutant mice, and the density of AChRs is also reduced by 40%

• at P30, postsynaptic areas are not organized into well-defined stripes and many terminal branches are interrupted by gaps in AChR staining

• at P30, measurments of postjuctional folds indicates that the total number and length of the folds appears similar to controls, but there are fewer openings of the folds to the synpatic cleft

• at P30, localization of other proteins, such as Apc, Rapsyn, Musk, Abl1, utrophin and dystroglycan, to the postsynaptic membrane is unaffected

abnormal miniature endplate potential ( J:128926 )

• at P30, the frequency of miniature endplate potentials is similar to controls, but the amplitude is reduced by 30% in mutant mice