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Runx2tm1Gss
Targeted Allele Detail
Nomenclature
Symbol: Runx2tm1Gss
Name: runt related transcription factor 2; targeted mutation 1, Gary S Stein
MGI ID: MGI:2183833
Synonyms: Runx2 delta C
Gene: Runx2  Location: Chr17:44495987-44814797 bp, - strand  Genetic Position: Chr17, 21.33 cM
Embryonic lethality in Runx2tm1Gss/Runx2tm1Gss and absence of clavicle in Runx2tm1Gss/Runx2+ mice

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

Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:70461
Parent Cell Line:  AB2.2 (ES Cell)
Strain of Origin:  129S7/SvEvBrd-Hprtb-m2
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutation:    Nucleotide substitutions
 
Mutation detailsA nonsense mutation was introduced after codon 376 of exon 8 resulting in deletion of the C-terminal region of the protein, which includes the nuclear matrix targeting signal (NMTS), and floxed TK-neo cassette was inserted into the intron preceding exon 8. Transient expression of cre recombinase in correctly targeted cells facilitated removal of the TK-neo cassette. RT-PCR analysis and Western blot confirmed the expression of the truncated gene product in homozygous mutant animals. Sequence analysis of the RT-PCR product confirmed the presence of the premature stop codon in exon 8. (J:70461)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 4 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 Runx2 Mutation:  14 strains or lines available
References
Original:  J:70461 Choi JY, et al., Subnuclear targeting of Runx/Cbfa/AML factors is essential for tissue-specific differentiation during embryonic development. Proc Natl Acad Sci U S A. 2001 Jul 17;98(15):8650-5
All:  11 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
05/19/2020
MGI 6.15
The Jackson Laboratory