|Institutional Source||Beutler Lab|
|Gene Name||sodium channel, voltage-gated, type IV, alpha|
|Synonyms||SkM1, mH2, Nav1.4|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7194 (G1)|
|Chromosomal Location||106318592-106353288 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 106324236 bp|
|Amino Acid Change||Isoleucine to Threonine at position 1243 (I1243T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000021056 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000021056]|
|Predicted Effect||probably benign
AA Change: I1243T
PolyPhen 2 Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)
AA Change: I1243T
|Coding Region Coverage||
|Validation Efficiency||100% (70/70)|
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. It is expressed in skeletal muscle, and mutations in this gene have been linked to several myotonia and periodic paralysis disorders. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice heterozygous or homozygous for a knock-in allele develop myotonia, increased myofiber damage, K+-sensitive paralysis and susceptibility to delayed weakness during recovery from fatigue. Homozygotes show perinatal lethality, low survival rate, unusual hind-limb clasping and reduced body weight. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Scn4a||
(F):5'- CTCCTCTTTCTGCAGGATGG -3'
(R):5'- TAGAAGTGCCTGGTTGTGCC -3'
(F):5'- TCCCCATAGTACTGTGAGGAG -3'
(R):5'- GTTGTGCCTCATCGGATCAGAAC -3'