Gdf5<Rgsc451> Chemically induced Allele Detail MGI Mouse (MGI:3699319)

Gdf5^Rgsc451
Chemically induced Allele Detail

Summary

Symbol:	Gdf5^Rgsc451
Name:	growth differentiation factor 5; RIKEN Genomic Sciences Center (GSC), 451
MGI ID:	MGI:3699319
Synonyms:	M100451
Gene:	Gdf5 Location: Chr2:155782943-155787204 bp, - strand Genetic Position: Chr2, 77.26 cM
Alliance:	Gdf5^Rgsc451 page

Mutation
origin

Strain of Origin:	C57BL/6JJcl
Project Collection:	RIKEN GSC ENU Project

Mutation
description

Allele Type:		Chemically induced (ENU) (Dominant negative)
Mutation:		Single point mutation
		Mutation details: A T-to-A transversion at nucleotide position 1536, in exon 2, results in substitution of arginine for tryptophan at amino acid position 480 (W408R) in a highly conserved region of the active signaling domain of the growth differentiation factor 5 protein. The mutant protein is secreted and dimerizes normally, but it inhibits the function of the wild-type protein in a dominant negative fashion. (J:125122)
Inheritance:		Semidominant

Phenotypes

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Expression

In Structures Affected by this Mutation:

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:	32 strains or lines available

References

Original:	J:125122 Masuya H, et al., A novel dominant-negative mutation in Gdf5 generated by ENU mutagenesis impairs joint formation and causes osteoarthritis in mice. Hum Mol Genet. 2007 Oct 1;16(19):2366-75
All:	4 reference(s)

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