About   Help   FAQ
Sgk3m1Btlr
Chemically induced Allele Detail
Summary
Symbol: Sgk3m1Btlr
Name: serum/glucocorticoid regulated kinase 3; mutation 1, Bruce Beutler
MGI ID: MGI:4421790
Synonyms: woolly
Gene: Sgk3  Location: Chr1:9868332-9971070 bp, + strand  Genetic Position: Chr1, 2.08 cM
Alliance: Sgk3m1Btlr page
Mutation
origin
Strain of Origin:  C57BL/6J
Project Collection: Beutler Mutagenetix
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsThe woolly mutation comprises a T to C transition at nucleotide position 87975 of the genomic DNA sequence (Genbank genomic region NC_000067 for linear genomic DNA sequence of Sgk3), in the 16th of the gene's 19 exons. The mutated base corresponds to nucleotide 1382 of transcript variant 1, Genbank record: NM_133220. The mutation is predicted to result in replacement of the cysteine at amino acid position 246, in the kinase domain, by arginine (C246R). (J:156584)
Inheritance:    Recessive
Phenotypes
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 1 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 Sgk3 Mutation:  30 strains or lines available
References
Original:  J:156584 Siggs O, et al., Woolly is an allele of Sgk3 and displays a curly coat. MGI Direct Data Submission. 2010;
All:  1 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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
11/12/2024
MGI 6.24
The Jackson Laboratory