About   Help   FAQ
Nkx2-5tm2.1Mwc
Targeted Allele Detail
Nomenclature
Symbol: Nkx2-5tm2.1Mwc
Name: NK2 homeobox 5; targeted mutation 2.1, Mauro W Costa
MGI ID: MGI:5828833
Synonyms: Nkx2-5Mdelta
Gene: Nkx2-5  Location: Chr17:26838664-26841565 bp, - strand  Genetic Position: Chr17, 13.6 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:239808
Parent Cell Line:  Bruce 4 (ES Cell)
Strain of Origin:  B6.Cg-Thy1a
Mutation
description
Allele Type:    Targeted (Not Specified)
Mutation:    Single point mutation
 
Mutation detailsThis allele has a C to G point substitution that changes isoleucine to methionine at amino acid 183 in the homeodomain region, equivalent to I184 in human. The loxP-flanked neomycin cassette in the 3-prime UTR was excised by crossing to a cre deleter strain. (J:239808)
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:  15 strains or lines available
References
Original:  J:239808 Furtado MB, et al., Point mutations in murine Nkx2-5 phenocopy human congenital heart disease and induce pathogenic Wnt signaling. JCI Insight. 2017 Mar 23;2(6):e88271
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
02/12/2019
MGI 6.13
The Jackson Laboratory