Nkx2-5^tm1.1Burg
Targeted Allele Detail

Summary

• Symbol: Nkx2-5^tm1.1Burg
• Name: NK2 homeobox 5; targeted mutation 1.1, Patrick G Burgon
• MGI ID: MGI:6286225
• Synonyms: Nkx2.5^R141C
• Gene: Nkx2-5 Location: Chr17:27057638-27063962 bp, - strand Genetic Position: Chr17, 13.6 cM
• Alliance: Nkx2-5^tm1.1Burg page

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 details: Exon 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)

Disease models

Expression

In Structures Affected by this Mutation:

7 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: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: 2 reference(s)