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| Nomenclature |
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Symbol:
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Gdf5Rgsc451
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Name:
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growth differentiation factor 5;
RIKEN Genomic Sciences Center (GSC), 451
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MGI ID: |
MGI:3699319 |
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Synonyms: |
M100451 |
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Gene:
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Gdf5
Location:
Chr2:155941023-155945367 bp, - strand
Genetic Position: Chr2,
77.26 cM
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Mutation
origin |
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Strain of Origin:
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C57BL/6JJcl
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Mutation
description |
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Allele
Type: | |
Chemically induced (ENU) |
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Mutation: | |
Single point mutation |
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Mutation details: A T-to-A transversion at nucleotide position 1536, in exon 2, results in substitution of arginine for tryptophan at amino acid position 480 (W408R) in a highly conserved region of the active signaling domain of the growth differentiation factor 5 protein. The mutant protein is secreted and dimerizes normally, but it inhibits the function of the wild-type protein in a dominant negative fashion.
(J:125122)
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Inheritance: | |
Semidominant |
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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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| References |
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Original: |
J:125122
Masuya H et al.,
"A novel dominant-negative mutation in Gdf5 generated by ENU mutagenesis impairs joint formation and causes osteoarthritis in mice."
Hum Mol Genet 2007 Oct 1;16(19):2366-75
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All: |
1 reference(s)
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Analysis Tools
