|Institutional Source||Beutler Lab|
|Gene Name||sodium channel, voltage-gated, type II, alpha|
|Synonyms||A230052E19Rik, Scn2a1, Nav1.2|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R4586 (G1)|
|Chromosomal Location||65620771-65767447 bp(+) (GRCm38)|
|Type of Mutation||splice site|
|DNA Base Change (assembly)||T to A at 65743051 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000143882 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028377] [ENSMUST00000100067] [ENSMUST00000200829]|
|Meta Mutation Damage Score||0.9755|
|Coding Region Coverage||
|Validation Efficiency||100% (96/96)|
FUNCTION: Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with four repeat domains, each of which is composed of six membrane-spanning segments, and one or more regulatory beta subunits. Voltage-gated sodium channels 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. In humans, variants of this gene are associated with seizure disorders and autism spectrum disorder. Mice homozygous for a knockout mutation die with severe hypoxia and extensive neuronal cell death, while gain of function mutations result in progressive seizure disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
PHENOTYPE: Homozygotes for a targeted mutation exhibit excess neuronal apoptosis (especially in the brainstem), reduced neuronal sodium channel currents in vitro, and severe hypoxia resulting in neonatal lethality. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Scn2a||
(F):5'- CACAAACGGACTTGAATGAATCTTGG -3'
(R):5'- GGTTCCTATTAGACCTTTTCACATG -3'
(F):5'- GGGATTGTTGATACATGTACACACTG -3'
(R):5'- TCTTTAACTAAAGAAACGAATCCCC -3'