FVB/NJ-Scn8a^m10J/GrsrCx

Stock number: 023609

Description

This strain has been discontinued. Please search the JAX Mice database for other Scn8a strains which may be suitable for your studies.

This Scn8a spontaneous mutant has a single amino acid substitution, R914S, which causes a phenotype as severe as that caused by null alleles.

Detailed description

Homozygotes can be identified by 2 weeks of age by smaller body size, ataxia, and tremor. They have progressive paralysis and die by 21 to 24 days of age. Schroeder et al. reported that no demyelination was evident in nerve cross sections, and conduction velocities were not different from age matched littermate controls at postnatal day 16. Male and female homozygous mutants display similar disease onset and progression. Molecular characterization showed this to be a C to A transversion causing an arginine to serine substitution in amino acid 914, which is in the ion pore region.

Development

The Scn8a^m10J mutation arose spontaneously at The Jackson Laboratory in the FVB/NJ inbred strain in 2012 and has been maintained co-isogenic on this background ever since.

Allele

Symbol: Scn8a^m10J
Name: mutation 10 Jackson
MGI accession ID: MGI:5506774
Generation method: Spontaneous
Marker symbol: Scn8a
Marker name: sodium channel, voltage-gated, type VIII, alpha
Marker synonyms: ataxia 3; BFIS5; C630029C19Rik; CERIII; CIAT; DEE13; EIEE13; med; mnd2; mnd-2; motor end-plate disease; MYOCL2; NaCh6; Nav1.6; nmf2; nmf335; nmf58; nur14; PN4; seal
Chromosome: 15
Strain of origin: FVB/NJ
Molecular note: This spontaneous C-to-A transversion in chromosome 15 nucleotide 101,013,440 (GRCm38) causes an arginine to serine substitution at amino acid 914 (p.R914S), which is in the ion pore region of domain 2.