Type | Description |
---|---|
Definition | sodium channel, voltage-gated, type IV, alpha |
Date | Results | Publications |
---|---|---|
2019-02-16 11:49:00 | we performed an unbiased mutagenesis screen on an HD mouse model, identifying a mutation in the skeletal muscle voltage-gated sodium channel (Scn4a, termed 'draggen' mutation) as a novel disease enhancer | 29509900 |
2017-05-13 12:38:00 | NaV1.4 null mice have latent myasthenia and a right shift of the force-stimulus relation, without evidence of periodic paralysis. Sodium current density was half that of wild-type muscle and no compensation by retained expression of the foetal NaV1.5 isoform was detected. Mice null for NaV1.4 did not survive beyond the second postnatal day. | 27048647 |
2015-03-21 10:35:00 | In-depth characterization of draggen mice uncovered novel systemic metabolic abnormalities in Scn4a mouse models and provided novel insights into disease mechanisms | 25348630 |
2015-01-17 11:54:00 | HyperKPP phenotype does not depend solely on the NaV1.4 content. | 24714718 |
2011-11-26 10:35:00 | Homozygous R669H mice had a robust hypokalemic periodic paralysis phenotype, with transient loss of muscle excitability and weakness in low-K+ challenge, insensitivity to high-K+ challenge, dominant inheritance, and absence of myotonia. | 21881211 |
Type | IDs |
---|---|
Synonymous | Nav1.4, SkM1, mH2 |
Gene |
UniProtKB-ID:
SCN4A_MOUSE,
G3X8T7_MOUSE
UniprotKB:
Q9ER60,
G3X8T7
UniParc:
UPI00001E686A,
UPI00000E6B73
EMBL:
BC129805,
AL604045,
AJ278787
Ensembl:
ENSMUSG00000001027
KO:
mmu:110880
|
Nucleutide sequences |
EMBL-CDS:
CAC17146.1,
CAM23795.1,
AAI29806.1
Ensembl_TRS:
ENSMUST00000021056
|
Protein sequencees |
Ensembl_PRO:
ENSMUSP00000021056
RefSeq:
XP_006532050.1,
XP_036012122.1,
NP_573462.2
|
Others |
UniRef100:
UniRef100_G3X8T7,
UniRef100_Q9ER60
UniRef90:
UniRef90_Q9ER60
UniRef50:
UniRef50_Q9WTU3-2
UniGene:
Mm.432528
CCDS:
CCDS48961.1
|
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Refseq |
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