Gk5^m1Btlr
Chemically induced Allele Detail

Summary

• Symbol: Gk5^m1Btlr
• 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: Gk5^m1Btlr 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 details: ENU 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

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)