About   Help   FAQ
Nkx2-5tm1.1Burg
Targeted Allele Detail
Nomenclature
Symbol: Nkx2-5tm1.1Burg
Name: NK2 homeobox 5; targeted mutation 1.1, Patrick G Burgon
MGI ID: MGI:6286225
Synonyms: Nkx2.5R141C
Gene: Nkx2-5  Location: Chr17:26838664-26844995 bp, - strand  Genetic Position: Chr17, 13.6 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:251389
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Mutation
description
Allele Type:    Targeted (Epitope tag, Humanized sequence)
Mutation:    Single point mutation
 
Mutation detailsExon 2 was replaced with one containing a CGC to TGC non-synonymous substitution resulting in an arginine to cysteine change at amino acid 141 (R141C), an frt-loxP-neo-frt-loxP cassette was inserted upstream of exon 2, and a flag tag was inserted at the ATG of exon 1. Flp-mediated recombination removed the neo selection cassette. This mutation is identified in patients with congenital heart defects. (J:251389)
Phenotypes
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Loading...
Expression
In Structures Affected by this Mutation: 8 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 Nkx2-5 Mutation:  14 strains or lines available
References
Original:  J:251389 Zakariyah AF, et al., Congenital heart defect causing mutation in Nkx2.5 displays in vivo functional deficit. J Mol Cell Cardiol. 2017 Apr;105:89-98
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)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
07/09/2019
MGI 6.14
The Jackson Laboratory