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Allele : Scn5a<tm1Asun> sodium channel, voltage-gated, type V, alpha; targeted mutation 1, Aijun Sun

Primary Identifier  MGI:7548761 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Scn5a
Transmission  Germline Strain of Origin  C57BL/6NTac
Is Recombinase  false Is Wild Type  false
molecularNote  A G to A change at position 674 (c.674G>A) resulting in an arginine to glutamine substitution at amino acid 225 (p.R225Q) was introduced in exon 6 and a loxP-flanked neomycin cassette was inserted downstream of exon 6. This is a novel non-synonymous variant associated with idiopathic dilated cardiomyopathy in human located in the S4 segment domain I (DI-S4).
  • mutations:
  • Single point mutation
  • synonyms:
  • DI-S4 KI,
  • DI-S4 KI
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

3 Publication categories