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| Nomenclature |
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Symbol:
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Runx2tm1Jals
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Name:
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runt related transcription factor 2;
targeted mutation 1, Janet L Stein
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MGI ID: |
MGI:3829607 |
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Synonyms: |
Runx2neo7 |
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Gene:
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Runx2
Location:
Chr17:44495987-44814797 bp, - strand
Genetic Position: Chr17,
21.33 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:143532
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Parent Cell Line:
| AB2.2 (ES Cell) |
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Strain of Origin:
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129S7/SvEvBrd-Hprtb-m2
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutation: | |
Insertion |
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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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Runx2 Mutation:
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3 strains or lines available |
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| References |
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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
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All: |
1 reference(s)
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Analysis Tools
