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Abcd2tm1Apuj
Targeted Allele Detail
Nomenclature
Symbol: Abcd2tm1Apuj
Name: ATP-binding cassette, sub-family D (ALD), member 2; targeted mutation 1, Aurora Pujol
MGI ID: MGI:3612442
Synonyms: Abcd2-, abcd2 KO
Gene: Abcd2  Location: Chr15:91145884-91191807 bp, - strand  Genetic Position: Chr15, 46.0 cM, cytoband E-F
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 detailsExons 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)
Phenotypes
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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:  4 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:  8 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/17/2015
MGI 5.21
The Jackson Laboratory