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Slc9a1swe
Spontaneous Allele Detail
Nomenclature
Symbol: Slc9a1swe
Name: solute carrier family 9 (sodium/hydrogen exchanger), member 1; slow-wave epilepsy
MGI ID: MGI:1857350
Synonyms: swe
Gene: Slc9a1  Location: Chr4:133097022-133151013 bp, + strand  Genetic Position: Chr4, 66.25 cM, cytoband D3-E
Slc9a1swe/Slc9a1swe with Slc9a1swe/+ at 4 weeks of age

Show the 1 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  SJL/J
Mutation
description
Allele Type:    Spontaneous
Mutation:    Undefined
 
Mutation detailsThis 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. (J:43429)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 5 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Slc9a1 Mutation:  27 strains or lines available
Notes
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).
References
Original:  J:43429 Cox GA, et al., Sodium/hydrogen exchanger gene defect in slow-wave epilepsy mutant mice. Cell. 1997 Oct 3;91(1):139-48
All:  12 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
11/30/2021
MGI 6.17
The Jackson Laboratory