Slc9a1^swe
Spontaneous Allele Detail

Summary

• Symbol: Slc9a1^swe
• 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
• Alliance: Slc9a1^swe page

Slc9a1^swe/Slc9a1^swe with Slc9a1^swe/⁺ 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 (Not Specified)
• Mutation: Single point mutation
• Mutation details: 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. (J:43429)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

5 anatomical structure(s)

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: 39 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: 13 reference(s)