Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Kcnq2tm1.1Naas
Name:	potassium voltage-gated channel, subfamily Q, member 2; targeted mutation 1.1, Nanda A Singh
MGI ID:	MGI:4397592
Synonyms:	Kcnq2A306T
Gene:	Kcnq2  Location: Chr2:180717372-180777093 bp, - strand  Genetic Position: Chr2, 103.57 cM, cytoband H3-4
Alliance:	Kcnq2tm1.1Naas page

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+

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)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

1 anatomical structure(s)

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:	47 strains or lines available

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)