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Gk5m1Btlr
Chemically induced Allele Detail
Summary
Symbol: Gk5m1Btlr
Name: glycerol kinase 5; mutation 1, Bruce Beutler
MGI ID: MGI:5568575
Synonyms: toku
Gene: Gk5  Location: Chr9:96001415-96066661 bp, + strand  Genetic Position: Chr9, 50.31 cM
Alliance: Gk5m1Btlr page
Mutation
origin
Strain of Origin:  C57BL/6J
Project Collection: Beutler Mutagenetix
Mutation
description
Allele Type:    Chemically induced (ENU) (Null/knockout)
Mutation:    Intragenic deletion
 
Mutation detailsENU mutagenesis induced a single nucleotide deletion of a C at 96140630 or 96140631 bp (NCBI v38) on chromosome 9 at position 607 or 608 bp within transcript Ensembl ENSMUST00000085217. This mutation causes a frameshift and subsequent coding of one unrelated amino acid (p.Thr174Pro) followed by a premature stop (p.Leu175Stop) in the 516 (variant 1) or 534 (variant 2) amino acid peptide. (J:243852)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 6 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 Gk5 Mutation:  44 strains or lines available
References
Original:  J:243852 Zhang D, et al., Skin-specific regulation of SREBP processing and lipid biosynthesis by glycerol kinase 5. Proc Natl Acad Sci U S A. 2017 Jun 27;114(26):E5197-E5206
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)
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last database update
10/29/2024
MGI 6.24
The Jackson Laboratory