Runx2^tm1Gss
Targeted Allele Detail

Summary

• Symbol: Runx2^tm1Gss
• Name: runt related transcription factor 2; targeted mutation 1, Gary S Stein
• MGI ID: MGI:2183833
• Synonyms: Runx2 delta C
• Gene: Runx2 Location: Chr17:44806873-45125518 bp, - strand Genetic Position: Chr17, 21.33 cM
• Alliance: Runx2^tm1Gss page

Embryonic lethality in Runx2^tm1Gss/Runx2^tm1Gss and absence of clavicle in Runx2^tm1Gss/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-Hprt1^b-m2

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Nucleotide substitutions
• Mutation details: A 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)

Expression

In Mice Carrying this Mutation:	2 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	3 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: 44 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)