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

Symbol: Runx2tm1Kish Name: runt related transcription factor 2; targeted mutation 1, Tadamitsu Kishimoto MGI ID: MGI:2176466 Synonyms: Cbfa1-, Runx2-, Runx2-deltaC, Runx2tm1Tki Gene: Runx2  Location: Chr17:44806873-45125518 bp, - strand  Genetic Position: Chr17, 21.33 cM Alliance: Runx2tm1Kish page

Calvaria and clavicle abnormalities in Gsk3btm1Jrw/Gsk3b+, Runx2tm1Kish/Runx2+, and Gsk3btm1Jrw/Gsk3b+ Runx2tm1Kish/Runx2+ mice Show the 1 phenotype image(s) involving this allele.

Germline Transmission:	Earliest citation of germline transmission: J:40783
Parent Cell Line:	E14 (ES Cell)
Strain of Origin:	129P2/OlaHsd

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion   Mutation details: A PGK-neomycin resistance cassette replaced 1.2 kb of exon 1, which encodes the first 41 amino acids of the runt domain. RT-PCR analysis of the runt region did not detect cDNA in liver from homozygous mice. (J:40783)

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

In Mice Carrying this Mutation:	94 assay results
In Structures Affected by this Mutation:	23 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 Runx2 Mutation:	42 strains or lines available

Original:	J:40783 Komori T, et al., Targeted disruption of Cbfa1 results in a complete lack of bone formation owing to maturational arrest of osteoblasts. Cell. 1997 May 30;89(5):755-64
All:	39 reference(s)