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Gdf5Bp-5J
Spontaneous Allele Detail
Summary
Symbol: Gdf5Bp-5J
Name: growth differentiation factor 5; brachypodism 5 Jackson
MGI ID: MGI:5502183
Gene: Gdf5  Location: Chr2:155782943-155787287 bp, - strand  Genetic Position: Chr2, 77.26 cM
Alliance: Gdf5Bp-5J page
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsA spontaneous T-to-A transversion in chromosome 2 position 155,941,581 (GRCm38) yields a tyrosine to asparagine substitution at amino acid 484 (p.Y484N). (J:200816, J:222308)
Inheritance:    Dominant
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: 3 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Gdf5 Mutation:  22 strains or lines available
References
Original:  J:200816 Karst SY, et al., Brachypodism 5 Jackson, a mouse model of GDF5 genetic diseases. MGI Direct Data Submission. 2013;
All:  2 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
05/30/2023
MGI 6.22
The Jackson Laboratory