|Institutional Source||Beutler Lab|
|Gene Name||sodium channel, voltage-gated, type III, alpha|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R5970 (G1)|
|Chromosomal Location||65457118-65567627 bp(-) (GRCm38)|
|Type of Mutation||intron|
|DNA Base Change (assembly)||T to A at 65494781 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000097647 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000066432] [ENSMUST00000100069]|
|Coding Region Coverage||
|Validation Efficiency||98% (63/64)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family, and is found in a cluster of five alpha subunit genes on chromosome 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in lethality of most mutants by weaning. Heterozygous mice exhibit improved glucose tolerance. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Scn3a||
(F):5'- TGGCTTGACCCTTCCTAGTAAAC -3'
(R):5'- GTTTAGCAGTGAGTCAGAACTG -3'
(F):5'- TTTTTCACAGTGATGGCATACC -3'
(R):5'- CAGTGAGTCAGAACTGGAAGAAAGC -3'