Phenotypes Associated with This Genotype

Genotype
MGI:7523313

• Allelic Composition: Chat^tm2(cre)Lowl/Chat⁺; Stmn2^em2Jmi/Stmn2^em2Jmi
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J * C57BL/6N

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

mortality/aging

preweaning lethality, incomplete penetrance ( J:337175 )

• 16.8% of mice are obtained at P21, indicating a significant deviation from Mendelian ratios

behavior/neurological

decreased grip strength ( J:337175 )

• at 3 months of age, mice show a significant decrease in the latency time (s) to fall from an inverted screen relative to control mice

nervous system

abnormal neuron morphology ( J:337175 )

• mice develop a distal motor neuropathy

abnormal neuromuscular synapse morphology ( J:337175 )

• at 3 months of age, lumbrical muscles show a NMJ phenotype similar to that of single constitutive Stmn2^em1Jmi homozygotes, where most lumbrical muscle fibers are partially denervated with highly fragmented postsynaptic endplates

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
motor peripheral neuropathy		DOID:2477		J:337175