Gdf5^Bp-5J
Spontaneous Allele Detail

Summary

• Symbol: Gdf5^Bp-5J
• Name: growth differentiation factor 5; brachypodism 5 Jackson
• MGI ID: MGI:5502183
• Gene: Gdf5 Location: Chr2:155782943-155787204 bp, - strand Genetic Position: Chr2, 77.26 cM
• Alliance: Gdf5^Bp-5J page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: A 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

Disease models

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

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: 27 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)