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Allele : Slc9a1<swe> solute carrier family 9 (sodium/hydrogen exchanger), member 1; slow-wave epilepsy

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.
  • mutations:
  • Single point mutation
  • synonyms:
  • swe,
  • swe
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

6 Carried By

0 Driven By

15 Publication categories