Nkx2-5^tm1.1Hkas
Targeted Allele Detail

Summary

• Symbol: Nkx2-5^tm1.1Hkas
• Name: NK2 homeobox 5; targeted mutation 1.1, Hideko Kasahara
• MGI ID: MGI:6294718
• Synonyms: Nkx2-5^R52G
• Gene: Nkx2-5 Location: Chr17:27057638-27063962 bp, - strand Genetic Position: Chr17, 13.6 cM
• Alliance: Nkx2-5^tm1.1Hkas page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:273096
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: A CGT to GGT point mutation was inserted in exon 2 resulting in a homeodomain missense mutation in which an arginine was changed to a glycine at amino acid 188 which corresponds to homeodomain position 52 (R52G). A floxed neomycin resistance gene was also inserted downstream of exon 2 and removed via cre-mediated recombination. Western blot analysis confirmed protein expression. This is a mutation identified in patients with familial congenital heart disease. (J:273096)

Disease models

Expression

In Structures Affected by this Mutation:

10 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: 17 strains or lines available

References

• Original: J:273096 Ashraf H, et al., A mouse model of human congenital heart disease: high incidence of diverse cardiac anomalies and ventricular noncompaction produced by heterozygous Nkx2-5 homeodomain missense mutation. Circ Cardiovasc Genet. 2014 Aug;7(4):423-433
• All: 5 reference(s)