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| Nomenclature |
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Symbol:
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Gdf5bp-J
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Name:
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growth differentiation factor 5;
brachypodism Jackson
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MGI ID: |
MGI:1855974 |
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Synonyms: |
GdfbpJ |
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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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Gdf5bp-J/Gdf5bp-J
Show the 1 image(s) involving this allele.
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Mutation
origin |
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Insertion |
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Mutation details: This remutation to brachypodism occurred in the A/J strain at The Jackson Laboratory. The mutation is caused by the insertion of a guanine residue into a stretch of three guanine residues in the gene sequence (position 1444-1448), producing a stop codon 41 amino acids later. (J:17582)
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Inheritance: | |
Recessive |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Notes |
The long bones of the limbs of mutant mice are slightly shorter than controls, and the fibula is shortened proximally. The bones of the axial skeleton are unaffected.
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| References |
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Original: |
J:17582
Storm EE et al.,
"Limb alterations in brachypodism mice due to mutations in a new member of the TGF beta-superfamily [see comments]"
Nature 1994 Apr 14;368(6472):639-43
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All: |
11 reference(s)
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Analysis Tools
