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Kcnh2tm1.1Hjd
Targeted Allele Detail
Nomenclature
Symbol: Kcnh2tm1.1Hjd
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: Chr5:24319589-24351604 bp, - strand  Genetic Position: Chr5, 10.94 cM
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 detailsA 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 7 anatomical structures
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:  3 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
05/26/2020
MGI 6.15
The Jackson Laboratory