Phenotypes associated with this allele

• Allele Symbol: Gars1^em2Rwb
• Allele Name: endonuclease-mediated mutation 2, Robert W Burgess
• Allele ID: MGI:6393282
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Gars1^em1Rwb/Gars1^em2Rwb	involves: C57BL/6NJ * FVB/NJ	MGI:6393320

Genotype
MGI:6393320

ht1

• Allelic Composition: Gars1^em1Rwb/Gars1^em2Rwb
• Genetic Background: involves: C57BL/6NJ * FVB/NJ

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

behavior/neurological

decreased grip strength ( J:284948 )

• 12-week-old mice show a reduction in grip strength

• treatment with an allele-specific RNAi results in improvement in grip strength

growth/size/body

decreased body weight ( J:284948 )

• 12-wek-old mice show a reduction in body weight

• treatment with an allele-specific RNAi results in increased body weight

muscle

muscular atrophy ( J:284948 )

• 9-week-old late-symptomatic mice show muscle atrophy acceleration

nervous system

abnormal axon morphology ( J:284948 )

• the motor branch of the femoral nerve shows a decrease in axon number and axon diameter

• the sensory branch of the femoral nerve shows reduced axon diameters, however the number of myelinated axons is unchanged

abnormal neuromuscular synapse morphology ( J:284948 )

• distal muscles show disruption of neuromuscular junctions (NMJs)

• 60% of NMJs are partially occupied and 8.5% are completely denervated in plantaris muscle

• NJM innervation defects are evident at 6 weeks of age

• treatment with an allele-specific RNAi results in an increase in NMJ innervation

axon degeneration ( J:284948 )

• 5-week-old early-symptomatic mice undergo active axon loss

• axon loss slows down in 9-week-old late-symptomatic mice

• treatment with an allele-specific RNAi prevents axon loss

decreased nerve conduction velocity ( J:284948 )

• nerve conduction velocities are reduced by 62% in the sciatic nerve

• treatment with an allele-specific RNAi results in improved sciatic nerve conduction velocity

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Charcot-Marie-Tooth disease type 2D		DOID:0110164	OMIM:601472	J:284948