Abcd3-KO

Nomenclature

C57BL/6Smoc-Abcd3em1Smoc

Cat. NO.

NM-KO-200905

Strain State

Embryo cryopreservation

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Gene Summary

Gene Symbol
Abcd3

Synonyms

PMP68， PMP70， Pxmp1， AI313901， AU018866， AW146054

NCBI ID

19299

MGI ID

1349216

Ensembl ID

ENSMUSG00000028127

Pubmed

Abcd3

Human Ortholog

ABCD3

Model Description

Exon 2 of Abcd3 gene was deleted to generate Abcd3 knockout mice.

Disease Connection

Congenital Bile Acid Synthesis Defect 5

Phenotype(s)

MGI:5695549

Reference(s)

Ferdinandusse S, Jimenez-Sanchez G, Koster J, Denis S, Van Roermund CW, Silva-Zolezzi I, Moser AB, Visser WF, Gulluoglu M, Durmaz O, Demirkol M, Waterham HR, Gokcay G, Wanders RJ, Valle D, A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3. Hum Mol Genet. 2015 Jan 15;24(2):361-70

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