Lipt1^em1Utsw
Endonuclease-mediated Allele Detail

Summary

• Symbol: Lipt1^em1Utsw
• Name: lipoyltransferase 1; endonuclease-mediated mutation 1, University of Texas Southwestern Medical Center
• MGI ID: MGI:6448947
• Synonyms: Lipt1^N44S
• Gene: Lipt1 Location: Chr1:37910819-37915309 bp, + strand Genetic Position: Chr1, 16.13 cM
• Alliance: Lipt1^em1Utsw page

Mutation origin

• Strain of Origin: (C57BL/6J x C3H/HeJ)F1/J

Mutation description

• Allele Type: Endonuclease-mediated (Not Specified)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR-targeting produced the amino acid substitution of asparagine with serine at position 44 (N44S). (J:288458)

Expression

In Mice Carrying this Mutation:	18 assay results
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 Lipt1 Mutation: 16 strains or lines available

References

• Original: J:288458 Ni M, et al., Functional Assessment of Lipoyltransferase-1 Deficiency in Cells, Mice, and Humans. Cell Rep. 2019 Apr 30;27(5):1376-1386.e6
• All: 2 reference(s)