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Abcd3tm1Safe
Targeted Allele Detail
Nomenclature
Symbol: Abcd3tm1Safe
Name: ATP-binding cassette, sub-family D (ALD), member 3; targeted mutation 1, Sacha Ferdinandusse
MGI ID: MGI:5695545
Gene: Abcd3  Location: Chr3:121758904-121815302 bp, - strand  Genetic Position: Chr3, 52.94 cM, cytoband G-H1
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:217065
Parent Cell Line:  J1 (ES Cell)
Strain of Origin:  129S4/SvJae
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutation:    Insertion
 
Mutation detailsA neo cassette was inserted into exon 1 at codon 34 via homologous recombination. Northern and immunoblot analysis confirmed the absence of mRNA and protein expression in the livers of homozygous mice. (J:217065)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 2 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 Abcd3 Mutation:  7 strains or lines available
References
Original:  J:217065 Ferdinandusse S, et al., A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3. Hum Mol Genet. 2015 Jan 15;24(2):361-70
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
12/03/2019
MGI 6.14
The Jackson Laboratory