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Allele : Scn1a<tm1.1Aesc> sodium channel, voltage-gated, type I, alpha; targeted mutation 1.1, Andrew Escayg

Primary Identifier  MGI:4458373 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Scn1a
Transmission  Germline Strain of Origin  129X1/SvJ
Is Recombinase  false Is Wild Type  false
molecularNote  Exon 26 was replaced with an frt flanked neo cassette and a modified exon 26 in which nucleotide substitution results in the amino acid substitution of histidine for arginine at position 1648 (R1648H), mimicking a mutation found in human generalized epilepsy with febrile seizures plus (GEFS+) patients. Flp mediated recombination removed the neo cassette.
  • mutations:
  • Nucleotide substitutions,
  • Insertion
  • synonyms:
  • Scn1a<RH>,
  • Scn1a<R1648H>,
  • Scn1a<R1648H>,
  • Scn1a<RH>
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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

17 Publication categories