Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

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

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

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)

View phenotypes and curated references for all genotypes (concatenated display).

In Mice Carrying this Mutation:	6 assay results 1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	8 anatomical structure(s)

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

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)