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Nkx2-5tm3.1Mwc
Targeted Allele Detail
Nomenclature
Symbol: Nkx2-5tm3.1Mwc
Name: NK2 homeobox 5; targeted mutation 3.1, Mauro W Costa
MGI ID: MGI:5828836
Synonyms: Nkx2-5Pdelta
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:    Nucleotide substitutions
 
Mutation detailsThis allele has an ATC to CCA change that replaces isoleucine with proline 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
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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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
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last database update
02/12/2019
MGI 6.13
The Jackson Laboratory