Abcd2^tm1Apuj
Targeted Allele Detail

Summary

• Symbol: Abcd2^tm1Apuj
• Name: ATP-binding cassette, sub-family D member 2; targeted mutation 1, Aurora Pujol
• MGI ID: MGI:3612442
• Synonyms: Abcd2^-, abcd2 KO
• Gene: Abcd2 Location: Chr15:91030074-91076002 bp, - strand Genetic Position: Chr15, 46.0 cM, cytoband E-F
• Alliance: Abcd2^tm1Apuj page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:104122
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: Exons 4 through 6 were deleted. Western blot showed a complete lack of protein in all tissues of mutant mice. Quantitative RT-PCR confirmed absence of full-length transcript, although shorter, smir-type and low expressed fragments were detected, consistent with nonsense-mediated mRNA decay process. (J:104122)

Expression

In Structures Affected by this Mutation:

7 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 Abcd2 Mutation: 53 strains or lines available

References

• Original: J:104122 Ferrer I, et al., Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage. Hum Mol Genet. 2005 Dec 1;14(23):3565-77
• All: 11 reference(s)