Tmlhe^em1Plaa
Endonuclease-mediated Allele Detail

Summary

• Symbol: Tmlhe^em1Plaa
• Name: trimethyllysine hydroxylase, epsilon; endonuclease-mediated mutation 1, Mario Plaas
• MGI ID: MGI:7564264
• Gene: Tmlhe Location: unknown Genetic Position: ChrX, Syntenic
• Alliance: Tmlhe^em1Plaa page

Mutation origin

• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Endonuclease-mediated (Not Specified)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 technology targeting exon 2 generated a 2 bp deletion (103352 and 103353) resulting in a frameshift and multiple stop codons after the first 13 amino acid coding triplets. N⁶-trimethyllysine dioxygenase enzyme activity is completely absent in the liver. (J:341247)

Expression

In Structures Affected by this Mutation:

2 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 Tmlhe Mutation: 2 strains or lines available

References

• Original: J:341247 Liepinsh E, et al., Low cardiac content of long-chain acylcarnitines in TMLHE knockout mice prevents ischaemia-reperfusion-induced mitochondrial and cardiac damage. Free Radic Biol Med. 2021 Dec;177:370-380
• All: 2 reference(s)