Abcd3^tm1Safe
Targeted Allele Detail

Summary

• Symbol: Abcd3^tm1Safe
• Name: ATP-binding cassette, sub-family D member 3; targeted mutation 1, Sacha Ferdinandusse
• MGI ID: MGI:5695545
• Gene: Abcd3 Location: Chr3:121552423-121608951 bp, - strand Genetic Position: Chr3, 52.94 cM, cytoband G-H1
• Alliance: Abcd3^tm1Safe page

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 details: A 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)

Disease models

Expression

In Structures Affected by this Mutation:

2 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 Abcd3 Mutation: 29 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)