Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

Symbol:	Abcd2tm1Apuj
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:	Abcd2tm1Apuj page

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+

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)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

7 anatomical structure(s)

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:	52 strains or lines available

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)