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| Nomenclature |
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Symbol:
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Runx2tm1Kish
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Name:
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runt related transcription factor 2;
targeted mutation 1, Tadamitsu Kishimoto
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MGI ID: |
MGI:2176466 |
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Synonyms: |
Cbfa1-, Runx2-, Runx2-deltaC, Runx2tm1Tki |
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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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Calvaria and clavicle abnormalities in Gsk3btm1Jrw/Gsk3b+, Runx2tm1Kish/Runx2+, and Gsk3btm1Jrw/Gsk3b+ Runx2tm1Kish/Runx2+ mice
Show the 1 image(s) involving this allele.
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:40783
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Parent Cell Line:
| E14 (ES Cell) |
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Strain of Origin:
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129P2/OlaHsd
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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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)
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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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Notes |
Phenotypic Similarity to Human Syndrome: Hypothyroidism, Congenital (J:162258)
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| References |
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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 [see comments]"
Cell 1997 May 30;89(5):755-64
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All: |
27 reference(s)
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Analysis Tools
