|
|
| Nomenclature |
|
Symbol:
|
Kcnq3tm1.1Naas
|
|
Name:
|
potassium voltage-gated channel, subfamily Q, member 3;
targeted mutation 1.1, Nanda A Singh
|
|
MGI ID: |
MGI:4397593 |
|
Synonyms: |
Kcnq3G311V |
|
Gene:
|
Kcnq3
Location:
Chr15:65995171-66286224 bp, - strand
Genetic Position: Chr15,
29.16 cM
|
|
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 (knock-in) |
|
Mutations: | |
Insertion, Nucleotide substitutions |
| |
|
Mutation details: A self-excising neo cassette was inserted upsteam of exon 7. Exon 5 contains nucleotide substitutions that result in the amino acid substitution of valine for glycine at position 311 (G311V). The neo cassette subsequently removes itself leaving a single loxP site. (J:154582)
|
|
Phenotypes
|
View phenotypes for all genotypes (concatenated display).
|
|
Disease models
|
|
| 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 Kcnq3 Mutation:
|
1 strain or line 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: |
1 reference(s)
|
|
Analysis Tools
