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Runx2tm1Hkiy
Targeted Allele Detail
Summary
Symbol: Runx2tm1Hkiy
Name: runt related transcription factor 2; targeted mutation 1, Hiroshi Kiyono
MGI ID: MGI:5750983
Synonyms: Runx2-Ineo
Gene: Runx2  Location: Chr17:44806873-45125518 bp, - strand  Genetic Position: Chr17, 21.33 cM
Alliance: Runx2tm1Hkiy page
Runx2tm1Hkiy/Runx2+ and Runx2tm1Hkiy/Runx2tm1Hkiy mice show delayed bone ossification

Show the 2 phenotype image(s) involving this allele.

Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:223410
Parent Cell Line:  E14.1 (ES Cell)
Strain of Origin:  129P2/OlaHsd
Mutation
description
Allele Type:    Targeted (Modified isoform(s))
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsThe I isoform-specific translation initiation site in exon 2 was replaced with a stop codon (TGA) and a floxed neomycin resistance cassette inserted downstream of exon 2. RT-PCR analysis of E18.5 calvarial cells confirmed that expression of I isoform is severely reduced by 84% whereas expression of II isoforms is largely retained (>40%) in homozygous mutant mice. Total Runx2 expression is reduced by 67%. (J:223410)
Generation of the Runx2tm1Hkiy allele
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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 Runx2 Mutation:  42 strains or lines available
References
Original:  J:223410 Okura H, et al., Runx2-I isoform contributes to fetal bone formation even in the absence of specific N-terminal amino acids. PLoS One. 2014;9(9):e108294
All:  2 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
04/16/2024
MGI 6.23
The Jackson Laboratory