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Gdf5bp-J
Spontaneous Allele Detail
Summary
Symbol: Gdf5bp-J
Name: growth differentiation factor 5; brachypodism Jackson
MGI ID: MGI:1855974
Synonyms: GdfbpJ
Gene: Gdf5  Location: Chr2:155782943-155787204 bp, - strand  Genetic Position: Chr2, 77.26 cM
Alliance: Gdf5bp-J page
Gdf5bp-J/Gdf5bp-J

Show the 1 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  A/J
Mutation
description
Allele Type:    Spontaneous
Mutation:    Insertion
 
Mutation detailsThis 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)
Inheritance:    Recessive
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: 11 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Gdf5 Mutation:  32 strains or lines available
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.
References
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
All:  13 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
12/10/2024
MGI 6.24
The Jackson Laboratory