Kcnh2^tm1.1Hjd
Targeted Allele Detail

Summary

• Symbol: Kcnh2^tm1.1Hjd
• Name: potassium voltage-gated channel, subfamily H (eag-related), member 2; targeted mutation 1.1, Henry J Duff
• MGI ID: MGI:4417903
• Synonyms: N629D
• Gene: Kcnh2 Location: Chr5:24524587-24556602 bp, - strand Genetic Position: Chr5, 10.94 cM
• Alliance: Kcnh2^tm1.1Hjd page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:155273
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Humanized sequence, Inserted expressed sequence, Null/knockout)
• Mutation: Insertion
• Mutation details: A mutation was created in exon 7 that results in an asparagine to aspartic acid substitution a codon 629 (N629D) and a floxed polII driven neomycin cassette was inserted in intron 7. Mice were mated to Meox2 mice in order to excise the neomycin selection cassette. (J:155273)

Expression

In Mice Carrying this Mutation:

4 assay results

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 Kcnh2 Mutation: 43 strains or lines available

References

• Original: J:155273 Teng GQ, et al., Homozygous missense N629D hERG (KCNH2) potassium channel mutation causes developmental defects in the right ventricle and its outflow tract and embryonic lethality. Circ Res. 2008 Dec 5;103(12):1483-91
• All: 1 reference(s)