Scn8a^m2Btlr

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Species

Mus musculus

Symbol

Scn8a^m2Btlr

Category

allele

Allele of gene

Scn8a

Transgenic Constructs

None

Synonyms

• dan

Description

ENU mutagenesis induced a A to T transversion at base pair 101,035,624 (v38) on Chromosome 15, or base pair 165,802 in the GenBank genomic region NC_000081. The mutation corresponds to residue 4861 in the mRNA sequence NM_001077499 (isoform 1) within exon 26 of 27 total exons and residue 4762 in the mRNA sequence NM_011323 (isoform 2) within exon 25 of 26 total exons. The mutation results in substitution of a lysine (K) for a premature stop codon (*) at amino acid 1570 in both isoforms of the SCN8A sodium channel. This model was generated at UT Southwestern Medical Center at Dallas.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations