B6.Cg-Sh3tc2^m1J/GrsrRwbJ

Stock number: 038028
Product name: Sh3tc2^G71X , Sh3tc2*G71X , Sh3tc2 G71X
Research areas: Cardiovascular Research, Mouse/Human Gene Homologs, Neurobiology Research

Description

Sh3tc2^m1J mice carry a spontaneous nonsense allele resulting in thin myelin Schwann cell processes and reduced nerve conduction. This strain may be useful for studying peripheral neuropathy and Charcot-Marie-Tooth disease type 4C.

Detailed description

Sh3tc2 (SH3 domain and tetratricopeptide repeats 2) is expressed in Schwann cells of peripheral nerves and encodes a protein that functions in myelination. Mutations in SH3TC2 are associated with Charcot-Marie-Tooth disease type 4C. Mice carrying this spontaneous nonsense (glutamine to a stop codon at position 71, G1X) allele exhibit tremors, poor performance on the rotarod test, thin myelin and supernumerary Schwann cell processes in peripheral motor and sensory nerves and reduced nerve conduction velocities by 3 months of age. Mice homozygous for the mutation are viable and fertile.

Development

This spontaneous mutation arose in the B6.129P2-Cnr2^tm1Dgen/J (Stock No. 005786) colony at The Jackson Laboratory. The mutation is identified as a C to T substitution at position 211 in exon 3 of 17 exons in the Sh3tc2 (SH3 domain and tetratricopeptide repeats 2) locus on chromosome 18. The mutation alters the corresponding amino acid from glutamine to a stop codon at position 71 (G71X). Mice were bred to C57BL/6J for at least 3 generations. The Cnr^tm1Dgen allele was removed by breeding.

Allele

Symbol: Sh3tc2^m1J
Name: mutation 1, The Jackson Laboratory
MGI accession ID: MGI:5444299
Generation method: Spontaneous
Attributes: Not Applicable
Marker symbol: Sh3tc2
Marker name: SH3 domain and tetratricopeptide repeats 2
Marker synonyms: CMT4C; D430044G18Rik; MNMN; RGD1309038
Chromosome: 18
Strain of origin: B6.129P2-Cnr2^tm1Dgen/J
Molecular note: The mutation is identified as a C-to-T substitution at coding nucleotide 211 (c.211C>T) in exon 3 of 17 exons. The mutation alters the corresponding amino acid from glutamine to a stop codon at position 71 (p.Q71*).