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Gdf5bp
Spontaneous Allele Detail
Summary
Symbol: Gdf5bp
Name: growth differentiation factor 5; brachypodism
MGI ID: MGI:1855972
Gene: Gdf5  Location: Chr2:155782943-155787204 bp, - strand  Genetic Position: Chr2, 77.26 cM
Alliance: Gdf5bp page
Mutation
origin
Strain of Origin:  Swiss albino stock
Mutation
description
Allele Type:    Spontaneous
Mutations:    Intragenic deletion, Inversion
 
Mutation details: This mutation involves deletion of some bases, and inversion of others, in the coding sequence. Specifically, bases 477-483 of the wild-type ORF are deleted, followed by an inversion of bases 484-496. The resulting frameshift creates a translational stop codon 62 amino acids later. (J:17582)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Mice Carrying this Mutation: 5 assay results
In Structures Affected by this Mutation: 10 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 3 strains available      Cell Lines: 0 lines available
Carrying any Gdf5 Mutation:  32 strains or lines available
References
Original:  J:19596 Landauer W, Brachypodism - A recessive mutation of house-mice. J Hered. 1952;43(6):293-8
All:  7 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)
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory