Kcnq2^tm1.1Naas
Targeted Allele Detail

Summary

• Symbol: Kcnq2^tm1.1Naas
• Name: potassium voltage-gated channel, subfamily Q, member 2; targeted mutation 1.1, Nanda A Singh
• MGI ID: MGI:4397592
• Synonyms: Kcnq2^A306T
• Gene: Kcnq2 Location: Chr2:180717372-180777093 bp, - strand Genetic Position: Chr2, 103.57 cM, cytoband H3-4
• Alliance: Kcnq2^tm1.1Naas page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:154582
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: A self-excising neo cassette was inserted upsteam of a modified exon 6 containing nucleotide substitutions that result in the amino acid substitution of threonine for alanine at position 306 (A306T). The neo cassette subsequently removes itself leaving a single loxP site. (J:154582)

Disease models

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: 0 strains available Cell Lines: 0 lines available
• Carrying any Kcnq2 Mutation: 50 strains or lines available

References

• Original: J:154582 Singh NA, et al., Mouse models of human KCNQ2 and KCNQ3 mutations for benign familial neonatal convulsions show seizures and neuronal plasticity without synaptic reorganization. J Physiol. 2008 Jul 15;586(14):3405-23
• All: 3 reference(s)