Phenotypes Associated with This Genotype

Genotype
MGI:3849420

• Allelic Composition: Gars1^C201R/Gars1⁺
• Genetic Background: involves: BALB/cAnN * C3H/HeH * C57BL/6J

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

nervous system

nervous system phenotype ( J:179811 )

N • normal axon numbers

abnormal innervation pattern to muscle ( J:149830 )

• reduced in the tibialis anterior and extensor digitorum longus

abnormal sensory neuron morphology ( J:149830 )

• axons within the saphenous nerve exhibit a shift towards smaller diameters compared to in wild-type mice

abnormal neuromuscular synapse morphology ( J:149830 , J:179811 )

• neuromuscular junctions (NMJs) in the extensor digitorum longus are smaller with much less complex geometry compared to in wild-type mice (J:149830)

• the tibialis anterior NMJs exhibit regions of partial innervation and portions of the terminal arbor appear atrophied unlike in wild-type mice (J:149830)

• neuromuscular junctions have regions of immature morphology or denervation (J:179811)

decreased nerve conduction velocity ( J:149830 , J:179811 )

• sensory nerve compound action potentials exhibit reduced conduction velocity and amplitude compared to in wild-type mice (J:149830)

• nerve conduction velocities are reduced to about 55% of wild-type levels (J:179811)

muscle

abnormal tibialis anterior morphology ( J:149830 )

• the tibialis anterior exhibits increased oxidative capacity, loss of muscle fibers, and increased cross-sectional fiber area consistent with denervation atrophy and compensatory hypertrophy unlike in wild-type mice

decreased tibialis anterior weight ( J:149830 )

• in female mice

decreased skeletal muscle fiber number ( J:149830 )

• in the tibialis anterior and the extensor digitorum longus

muscle weakness ( J:149830 )

• the maximum twitch and tetanic forces of the tibialis anterior are less than those of wild-type muscle

• however, the force output of the extensor digitorum longus is normal

behavior/neurological

decreased grip strength ( J:149830 , J:179811 )

• Background Sensitivity: male mouse grip strength is reduced 57% compared to that of wild-type mice on mixed BALB/cAnN, C3H/HeH, and C57BL/6 background whereas grip strength is reduced 40% on a mixed BALB/cAnN and C3H/HeH background (J:149830)

• mutants exhibit wire hanging deficits, unable to hang for the entire task time (J:179811)

growth/size/body

decreased body weight ( J:149830 )

• in female mice

limbs/digits/tail

abnormal tibialis anterior morphology ( J:149830 )

• the tibialis anterior exhibits increased oxidative capacity, loss of muscle fibers, and increased cross-sectional fiber area consistent with denervation atrophy and compensatory hypertrophy unlike in wild-type mice

decreased tibialis anterior weight ( J:149830 )

• in female mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Charcot-Marie-Tooth disease type 2D		DOID:0110164	OMIM:601472	J:149830 , J:179811