Gdf5^bp-J
Spontaneous Allele Detail

Summary

• Symbol: Gdf5^bp-J
• Name: growth differentiation factor 5; brachypodism Jackson
• MGI ID: MGI:1855974
• Synonyms: Gdf^bpJ
• Gene: Gdf5 Location: Chr2:155782943-155787204 bp, - strand Genetic Position: Chr2, 77.26 cM
• Alliance: Gdf5^bp-J page

Gdf5^bp-J/Gdf5^bp-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 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)
• Inheritance: Recessive

Disease models

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)