Kcnq3^tm1.1Naas
Targeted Allele Detail

Summary

• Symbol: Kcnq3^tm1.1Naas
• Name: potassium voltage-gated channel, subfamily Q, member 3; targeted mutation 1.1, Nanda A Singh
• MGI ID: MGI:4397593
• Synonyms: Kcnq3^G311V
• Gene: Kcnq3 Location: Chr15:65858236-66158491 bp, - strand Genetic Position: Chr15, 29.16 cM
• Alliance: Kcnq3^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 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)

Disease models

Expression

In Structures Affected by this Mutation:

2 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 Kcnq3 Mutation: 48 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: 1 reference(s)