|Institutional Source||Beutler Lab|
|Gene Name||ATP-binding cassette, sub-family B (MDR/TAP), member 11|
|Synonyms||PFIC2, Bsep, PGY4, Lith1, ABC16, sister of P-glycoprotein|
|Essential gene?||Possibly essential (E-score: 0.602)|
|Stock #||R7660 (G1)|
|Chromosomal Location||69238282-69342616 bp(-) (GRCm38)|
|Type of Mutation||splice site (5 bp from exon)|
|DNA Base Change (assembly)||C to T at 69287594 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000137017 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000102709] [ENSMUST00000102710] [ENSMUST00000180142]|
|Meta Mutation Damage Score||0.9755|
|Coding Region Coverage||
|Validation Efficiency||100% (70/70)|
FUNCTION: The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is the major canalicular bile salt transporter in humans and mice. Mutations in the human gene cause a form of progressive familial intrahepatic cholestases which are a group of inherited disorders with severe cholestatic liver disease from early infancy. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene display intrahepatic cholestasis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Abcb11||
(F):5'- GCAGTTGAAATTACAAATGTGAGCC -3'
(R):5'- CATTGCTTGGTTAGGTGCAC -3'
(F):5'- GGAGGAAGGAAGGAAGGAAGG -3'
(R):5'- GTTAGGTGCACAGTGACATTATGAAC -3'