Kcnq2^tm1Hsa
Targeted Allele Detail

Summary

• Symbol: Kcnq2^tm1Hsa
• Name: potassium voltage-gated channel, subfamily Q, member 2; targeted mutation 1, Hitoshi Sasai
• MGI ID: MGI:2386963
• Synonyms: KCNQ2 -
• Gene: Kcnq2 Location: Chr2:180717372-180777093 bp, - strand Genetic Position: Chr2, 103.57 cM, cytoband H3-4
• Alliance: Kcnq2^tm1Hsa page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:62797
• Parent Cell Line: E14.1 (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Exons 3 through 5 were replaced by a neomycin selection cassette. The deleted region encompassed 429 bp encoding the second transmembrane domain and a portion of the pore region. While normal transcript was undetected by semi-quantitative RT-PCR analysis, low levels of an aberrant transcript in which exon 2 spliced to exon 6 were observed in homozygous mutant embryos. (J:62797)

Disease models

Expression

In Mice Carrying this Mutation:	6 assay results
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: 0 strains available Cell Lines: 0 lines available
• Carrying any Kcnq2 Mutation: 50 strains or lines available

References

• Original: J:62797 Watanabe H, et al., Disruption of the epilepsy KCNQ2 gene results in neural hyperexcitability. J Neurochem. 2000 Jul;75(1):28-33
• All: 4 reference(s)