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Targeted Allele Detail
Symbol: Gdf6tm1Kng
Name: growth differentiation factor 6; targeted mutation 1, David M Kingsley
MGI ID: MGI:2661063
Synonyms: Gdf6-
Gene: Gdf6  Location: Chr4:9844372-9862345 bp, + strand  Genetic Position: Chr4, 4.35 cM
Germline Transmission:  Earliest citation of germline transmission: J:83132
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
Mutation detailsA genomic fragment containing exon 2 was replaced with a neomycin selection cassette inserted by homologous recombination. The deleted region encoded the entire mature signalling region and 120 amino acids of the pro region. (J:83132)
View phenotypes for all genotypes (concatenated display).
In Mice Carrying this Mutation: 15 assay results
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 Gdf6 Mutation:  5 strains or lines available
Phenotypic Similarity to Human Syndrome: carpal/tarsal coalition, conductive deafness, scoliosis and craniosynostosis (J:83132, J:187424)

Original:  J:83132 Settle SH Jr, et al., Multiple joint and skeletal patterning defects caused by single and double mutations in the mouse Gdf6 and Gdf5 genes. Dev Biol. 2003 Feb 1;254(1):116-30
All:  3 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 5.21
The Jackson Laboratory