Kcnn2^m1Btlr
Chemically induced Allele Detail

Summary

• Symbol: Kcnn2^m1Btlr
• Name: potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2; mutation 1, Bruce Beutler
• MGI ID: MGI:3800578
• Synonyms: jitter
• Gene: Kcnn2 Location: Chr18:45401927-45818950 bp, + strand Genetic Position: Chr18, 24.34 cM, cytoband C
• Alliance: Kcnn2^m1Btlr page

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: Beutler Mutagenetix

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: This mutation, whose phenotype was first observed among G3 progeny of an ENU-mutagenized male mouse, has been identified as a T to C transition at nucleotide 503 of this gene, in the third of its 9 exons. This substitution is predicted to result in replacement of leucine by proline at amino acid position 168 of the standard form of the protein, which corresponds to amino acid position 443 of the long protein isoform, in the second transmembrane helix. Expression has not been analyzed. (J:137501)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Kcnn2 Mutation: 43 strains or lines available

References

• Original: J:137501 Blasius AL, et al., Record for "jitter", updated 30th of July, 2008. MGI Direct Data Submission. 2008
• All: 1 reference(s)