Echs1^em1Lutzy
Endonuclease-mediated Allele Detail

Summary

• Symbol: Echs1^em1Lutzy
• Name: enoyl Coenzyme A hydratase, short chain, 1, mitochondrial; endonuclease-mediated mutation 1, Cathy Lutz
• MGI ID: MGI:8282681
• Gene: Echs1 Location: Chr7:139685623-139696334 bp, - strand Genetic Position: Chr7, 85.12 cM
• Alliance: Echs1^em1Lutzy page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/Cas9 technology generated a missense p.F33S (c.98T to C) point substitution as well as a synonymous p.A31A (CGT to GCA) change. Brain liver and heart assessed by western blot at 2 months of age from homozygotes were found to have much less than normal levels of ECHS1 expression. (J:378496)
• Inheritance: Semidominant

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: 0 strains available Cell Lines: 0 lines available
• Carrying any Echs1 Mutation: 25 strains or lines available

References

• Original: J:378496 Eller MM, et al., Valine and Inflammation Drive Epilepsy in a Mouse Model of ECHS1 Deficiency. bioRxiv. 2024
• All: 1 reference(s)