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Nkx2-5tm1.1Hkas
Targeted Allele Detail
Summary
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
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 detailsA 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 6 assay results
1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation: 10 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:  19 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)

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
02/20/2024
MGI 6.23
The Jackson Laboratory