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Runx2tm1Jals
Targeted Allele Detail
Summary
Symbol: Runx2tm1Jals
Name: runt related transcription factor 2; targeted mutation 1, Janet L Stein
MGI ID: MGI:3829607
Synonyms: Runx2neo7
Gene: Runx2  Location: Chr17:44806873-45125518 bp, - strand  Genetic Position: Chr17, 21.33 cM
Alliance: Runx2tm1Jals page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:143532
Parent Cell Line:  AB2.2 (ES Cell)
Strain of Origin:  129S7/SvEvBrd-Hprt1b-m2
Mutation
description
Allele Type:    Targeted (Hypomorph)
Mutation:    Insertion
 
Mutation detailsA 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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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:  42 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)

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
05/21/2024
MGI 6.23
The Jackson Laboratory