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Nkx2-5tm3Mwc
Targeted Allele Detail
Summary
Symbol: Nkx2-5tm3Mwc
Name: NK2 homeobox 5; targeted mutation 3, Mauro W Costa
MGI ID: MGI:5828835
Synonyms: Nkx2-5I18P
Gene: Nkx2-5  Location: Chr17:27057638-27063962 bp, - strand  Genetic Position: Chr17, 13.6 cM
Alliance: Nkx2-5tm3Mwc page
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, and a loxP-flanked neomycin cassette in the 3-prime UTR. (J:239808)
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:  21 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:  2 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
05/14/2024
MGI 6.23
The Jackson Laboratory