Sh3tc2m1J mice carry a spontaneous nonsense allele resulting in thin myelin Schwann cell process and reduced nerve conduction. This strain may be useful for studying peripheral neuropathy and Charcot-Marie-Tooth disease type 4C.Read More +
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) allele exhibit 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.
This spontaneous mutation arose in the B6.129P2-Cnr2tm1Dgen/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. The mutation alters the corresponding amino acid from glutamine to a stop codon at position 71. Mice were bred to C57BL/6J for at least 3 generations. The Cnrtm1Dgen allele was removed by breeding.
|Allele Name||mutation 1, The Jackson Laboratory|
|Allele Type||Spontaneous (Not Applicable)|
|Gene Symbol and Name||Sh3tc2, SH3 domain and tetratricopeptide repeats 2|
|Strain of Origin||B6.129P2-Cnr2tm1Dgen/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*).|
While maintaining a live colony, these mice are bred as heterozygotes.
When using the B6.Cg-Sh3tc2m1J/GrsrRwb mouse strain in a publication, please cite the originating article(s) and include JAX stock #021074 in your Materials and Methods section.