Phenotypes Associated with This Genotype

Genotype
MGI:4367049

• Allelic Composition: Sh3tc2^tm1.1Rchr/Sh3tc2^tm1.1Rchr
• Genetic Background: involves: 129/Sv * FVB/N

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

nervous system

abnormal axon morphology ( J:153705 )

• mice exhibit a shift in axonal size distribution towards small axons compared to in wild-type mice

abnormal node of Ranvier morphology ( J:153705 )

• mice exhibit abnormal integrity of nodes of Ranvier resulting in large nodal gaps compared to in wild-type mice

neurodegeneration ( J:153705 )

• progressive peripheral neuropathy

abnormal myelination ( J:153705 )

• peripheral nerves are hypomyelinated compared to controls, especially large caliber nerves such as the sciatic nerve; semithin sections of sciatic nerves isolated from animals 10 (P10), 23 (P23), 56 (P56), and 365 (P365) days old revealed obvious hypomyelination at P56 and at P365

• however, myelination of optic nerve axons is normal, suggesting a PNS-specific demyelinating defect

decreased nerve conduction velocity ( J:153705 )

• beginning at 4 weeks and slowly worsening with age, mice exhibit reduced motor and sensory nerve conduction velocity compared with wild-type mice

behavior/neurological

limb grasping ( J:153705 )

• with clenched toes

skeleton

skeleton phenotype ( J:153705 )

N • mice have normal skeletal structures

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Charcot-Marie-Tooth disease type 4C		DOID:0110183	OMIM:601596	J:153705