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Abcc6tm1Aabb
Targeted Allele Detail
Nomenclature
Symbol: Abcc6tm1Aabb
Name: ATP-binding cassette, sub-family C (CFTR/MRP), member 6; targeted mutation 1, Arthur AB Bergen
MGI ID: MGI:3614409
Synonyms: Abcc6-
Gene: Abcc6  Location: Chr7:45976380-46030302 bp, - strand  Genetic Position: Chr7, 29.64 cM, cytoband B3
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:105062
Parent Cell Line:  E14 (ES Cell)
Strain of Origin:  129P2/OlaHsd
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsExons 16-18, encoding amino acids 647-782 of the transcript and the largest part of the first nucleotide-binding fold (NBF1) including Walker A and B and the signature C motifs, were replaced with a PGK-hygro cassette. RT-PCR failed to detect transcript using primers located within the deleted area. An aberrant transcript that lacked the NBF1 region was detected, however, sequencing revealed that any putative reading frame would be interrupted by several stop codons through the introduction of the hygro cassette. Protein was not detected in mutant liver or kidney samples. (J:105062)
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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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 Abcc6 Mutation:  3 strains or lines available
References
Original:  J:105062 Gorgels TG, et al., Disruption of Abcc6 in the mouse: novel insight in the pathogenesis of pseudoxanthoma elasticum. Hum Mol Genet. 2005 Jul 1;14(13):1763-73
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
08/18/2015
MGI 6.0
The Jackson Laboratory