例如:"NBL1", "4681", "drought"
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110880 Scn4a

110880

Scn4a

sodium channel, voltage-gated, type IV, alpha

protein-coding

Mus musculus

基因描述

Type Description
Definition sodium channel, voltage-gated, type IV, alpha

研究结论

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

名称对应

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

全选

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