Nkx2-5^tm2.1Mwc
Targeted Allele Detail

Summary

• Symbol: Nkx2-5^tm2.1Mwc
• Name: NK2 homeobox 5; targeted mutation 2.1, Mauro W Costa
• MGI ID: MGI:5828833
• Synonyms: Nkx2-5Mdelta
• Gene: Nkx2-5 Location: Chr17:27057638-27063962 bp, - strand Genetic Position: Chr17, 13.6 cM
• Alliance: Nkx2-5^tm2.1Mwc page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:239808
• Parent Cell Line: Bruce 4 (ES Cell)
• Strain of Origin: B6.Cg-Thy1^a

Mutation description

• Allele Type: Targeted (Not Specified)
• Mutation: Single point mutation
• Mutation details: This 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)

Disease models

Expression

In Structures Affected by this Mutation:

8 anatomical structure(s)

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: 1 reference(s)