Phenotypes Associated with This Genotype

Genotype
MGI:3530661

• Allelic Composition: Nrg1^tm1Leth/Nrg1⁺
• Genetic Background: involves: 129S1/Sv * C57BL/6

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

nervous system

abnormal neuromuscular synapse morphology ( J:39800 )

• a 51% reduction in the density of acetylcholine receptors on the postsynaptic membrane was observed by [125-I] bungarotoxin staining

• no increase in size of the endplate was observed

abnormal PNS synaptic transmission ( J:39800 )

• neuromuscular synapse transmission was more sensitive to curare in heterozygotes than controls

• repetitive nerve stimulation stimulated compound muscle action potentials in heterozygous mice similar to controls, but lower doses of curare were required to decrease the amplitude compared to controls

abnormal endplate potential ( J:39800 )

• the mean evoked end plate potenital was not reduced in heterozygotes, although quantal size is reduced; compensatory mechanisms appear to increase the number of quanta released per pulse

• evoked end plate potentials decay more rapidly at heterozygous endplates than at controls

abnormal miniature endplate potential ( J:39800 )

• the mean spontaneous miniature endplate potentials were reduced by approximately 30% in heterozygous mice