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Acox1lampe1
Chemically induced Allele Detail
Nomenclature
Symbol: Acox1lampe1
Name: acyl-Coenzyme A oxidase 1, palmitoyl; lampe1
MGI ID: MGI:5285926
Gene: Acox1  Location: Chr11:116171888-116199045 bp, - strand  Genetic Position: Chr11, 80.96 cM
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsAn 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
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 3 anatomical structures
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:  16 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:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
02/18/2020
MGI 6.14
The Jackson Laboratory