Runx2^tm1Jals
Targeted Allele Detail

Summary

• Symbol: Runx2^tm1Jals
• Name: runt related transcription factor 2; targeted mutation 1, Janet L Stein
• MGI ID: MGI:3829607
• Synonyms: Runx2^neo7
• Gene: Runx2 Location: Chr17:44806873-45125518 bp, - strand Genetic Position: Chr17, 21.33 cM
• Alliance: Runx2^tm1Jals page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:143532
• Parent Cell Line: AB2.2 (ES Cell)
• Strain of Origin: 129S7/SvEvBrd-Hprt1^b-m2

Mutation description

• Allele Type: Targeted (Hypomorph)
• Mutation: Insertion
• Mutation details: A floxed neo cassette was inserted into intron 7. The retention of the neo cassette results in a 55% to 70% decrease in relative full-length transcript expression in homozygotes and a 79% to 84% decrease in heterozygotes. Expression of a truncated transcript was observed, and reduced protein expression was confirmed by western blot analysis. (J:143532)

Disease models

Expression

In Structures Affected by this Mutation:

4 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:143532 Lou Y, et al., A Runx2 threshold for the cleidocranial dysplasia phenotype. Hum Mol Genet. 2009 Feb 1;18(3):556-68
• All: 1 reference(s)