Scn8a^5J

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Species

Mus musculus

Symbol

Scn8a^5J

Category

allele

Allele of gene

Scn8a

Transgenic Constructs

None

Synonyms

• neuroscience mutagenesis facility, 5
• NMF5

Show All 4

Description

This phenotypic mutant was identified in an ENU mutagenesis screen. A complementation test between nmf5 and C3HeB/FeJ-Scn8a^med-J revealed that nmf5 is a new allele of Scn8a. Molecular sequence analysis revealed that an A-to-T transversion mutation had occurred that is predicted to change the amino acid isoleucine 1392 to phenylalanine in the encoded protein. This conserved residue is within the S5-S6 pore loop of transmembrane domain 3.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations