Dnm1l^tm1.1Dnsh
Targeted Allele Detail

Summary

• Symbol: Dnm1l^tm1.1Dnsh
• Name: dynamin 1-like; targeted mutation 1.1, Farhad R Danesh
• MGI ID: MGI:8434888
• Synonyms: Drp1S600^A
• Gene: Dnm1l Location: Chr16:16130094-16176823 bp, - strand Genetic Position: Chr16, 10.12 cM
• Alliance: Dnm1l^tm1.1Dnsh page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:289688
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6NTac

Mutation description

• Allele Type: Targeted (Not Applicable)
• Mutations: Insertion, Single point mutation
• Mutation details:

  Serine codon 600 (TCT) in exon 18 was changed to alanine (GCT) (NP_001021118:p.S600A) and an FRT site flanked neomycin resistance gene cassette was inserted into intron 17. The neo cassette was removed through subsequent Flp-mediated recombination. In the encoded protein, the mutation changes a phosphorylatable residue into one that cannot be phosphorylated, which impairs mitochondrial fission and leads to protection from diabetic nephropathy (DN) progression in diabetic mice. (J:289688)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Dnm1l Mutation: 45 strains or lines available

References

• Original: J:289688 Galvan DL, et al., Drp1S600 phosphorylation regulates mitochondrial fission and progression of nephropathy in diabetic mice. J Clin Invest. 2019 May 7;129(7):2807-2823
• All: 1 reference(s)