Phenotypes Associated with This Genotype

Genotype
MGI:5308205

• Allelic Composition: Gars1^Nmf249/Gars1⁺
• Genetic Background: involves: C57BL/6J * CAST/Ei

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

growth/size/body

decreased body weight ( J:179811 )

nervous system

abnormal nervous system morphology ( J:179811 )

• size of the femoral nerve is reduced

abnormal axon morphology ( J:179811 )

• 26% reduction in axons in motor nerves

abnormal neuromuscular synapse morphology ( J:179811 )

• partially denervated neuromuscular junctions

demyelination ( J:179811 )

• motor and sensory branches of the femoral nerve have a reduction in myelinated axon numbers

decreased nerve conduction velocity ( J:179811 )

• nerve conduction is reduced to about 25% of wild-type velocities

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Charcot-Marie-Tooth disease type 2D		DOID:0110164	OMIM:601472	J:179811