Kcnq1^tm4Kpfe
Targeted Allele Detail

Summary

• Symbol: Kcnq1^tm4Kpfe
• Name: potassium voltage-gated channel, subfamily Q, member 1; targeted mutation 4, Karl Pfeifer
• MGI ID: MGI:3056652
• Gene: Kcnq1 Location: Chr7:142660614-142980787 bp, + strand Genetic Position: Chr7, 88.12 cM
• Alliance: Kcnq1^tm4Kpfe page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:93197
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Not Specified)
• Mutation: Single point mutation
• Mutation details: A C to T transition resulting in an amino acid change of A340V was introduced in exon 7 via homologous recombination. Northern analysis showed that RNA is expressed at wild-type levels. Sequencing of amplified cDNA confirmed presence of the mutation. (J:93197)

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)
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hm1	Kcnq1^tm4Kpfe/Kcnq1^tm4Kpfe	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

Phenotypes:

Affected Systems	hm1
show or hide all annotated terms
normal phenotype	√
no abnormal phenotype detected	√

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

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 Kcnq1 Mutation: 43 strains or lines available

References

• Original: J:93197 Casimiro MC, et al., Targeted point mutagenesis of mouse Kcnq1: phenotypic analysis of mice with point mutations that cause Romano-Ward syndrome in humans. Genomics. 2004 Sep;84(3):555-64
• All: 1 reference(s)