Echdc1^em1Gtbo
Endonuclease-mediated Allele Detail

Summary

• Symbol: Echdc1^em1Gtbo
• Name: enoyl Coenzyme A hydratase domain containing 1; endonuclease-mediated mutation 1, Guido T Bommer
• MGI ID: MGI:6806163
• Gene: Echdc1 Location: Chr10:29189162-29223465 bp, + strand Genetic Position: Chr10, 16.59 cM
• Alliance: Echdc1^em1Gtbo page

Mutation origin

• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 technology targeted exon 5 before a highly conserved glutamate residue in the motif GGGAEFTT and generated a 10 bp deletion in exon 5 (ATAAGTGTTG), resulting in a frameshift and a premature stop codon at the beginning of exon 6. (J:313032)

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 Echdc1 Mutation: 19 strains or lines available

References

• Original: J:313032 Dewulf JP, et al., ECHDC1 knockout mice accumulate ethyl-branched lipids and excrete abnormal intermediates of branched-chain fatty acid metabolism. J Biol Chem. 2021 Oct;297(4):101083
• All: 1 reference(s)