Primary Identifier | MGI:1857350 | Allele Type | Spontaneous |
Attribute String | Not Specified | Gene | Slc9a1 |
Inheritance Mode | Recessive | Strain of Origin | SJL/J |
Is Recombinase | false | Is Wild Type | false |
description | This mutation causes central nervous system symptoms including locomotor ataxia and an epileptic like seizure phenotype consisting of 3 second absence and clonic-tonic seizures. Neuronal cell death occurs in cerebellum and brainstem. The swe mutation is a null allele of Slc9a1 (J:43429). |
molecularNote | This spontaneous A to T transversion at nucleotide 1639 is predicted to change lysine to a stop codon at amino acid 442, which is between the eleventh and twelfth transmembrane protein. |