| Primary Identifier | MGI:3838627 | Allele Type | Spontaneous |
| Attribute String | Hypomorph | Gene | Scn8a |
| Inheritance Mode | Recessive | Strain of Origin | BALB/cJ |
| Is Recombinase | false | Is Wild Type | false |
| molecularNote | Failed complementation test proved this an allele of Scn8a. A 3 base pair deletion c.5248_5250delATC was identified in the final exon of the gene. This in-frame deletion removes isoleucine codon 1750 in transmembrane segment DIVS6. Deletion of isoleucine 1750 alters the secondary structure of the distal half of the alpha-helix in transmembrane segment DIVS6. Glycosylation of the mutant protein is limited to core glycosylation for a molecular weight of 240 kDa instead of the wild type 260 kDa. |
