Acox1^lampe1
Chemically induced Allele Detail

Summary

• Symbol: Acox1^lampe1
• Name: acyl-Coenzyme A oxidase 1, palmitoyl; lampe1
• MGI ID: MGI:5285926
• Gene: Acox1 Location: Chr11:116062714-116089605 bp, - strand Genetic Position: Chr11, 80.96 cM
• Alliance: Acox1^lampe1 page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: An ENU induced mutation created a new splice site in intron 11-12 resulting in skipping of exon 12 and inclusion of 25 bps of intronic sequence and a premature stop codon at amino acid 618. Immunoblot analysis confirmed the expression of a mutant protein in the kidneys that has lower molecular weight, consistent with a 48 amino acid deletion. (J:174942)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

3 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 Acox1 Mutation: 42 strains or lines available

References

• Original: J:174942 Sheridan R, et al., Lampe1: an ENU-germline mutation causing spontaneous hepatosteatosis identified through targeted exon-enrichment and next-generation sequencing. PLoS One. 2011;6(7):e21979
• All: 2 reference(s)