RGD Reference Report - Congenital jaundice in rats with a mutation in a multidrug resistance-associated protein gene. - Rat Genome Database

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Congenital jaundice in rats with a mutation in a multidrug resistance-associated protein gene.

Authors: Paulusma, CC  Bosma, PJ  Zaman, GJ  Bakker, CT  Otter, M  Scheffer, GL  Scheper, RJ  Borst, P  Oude Elferink, RP 
Citation: Paulusma CC, etal., Science 1996 Feb 23;271(5252):1126-8.
RGD ID: 69812
Pubmed: PMID:8599091   (View Abstract at PubMed)

The human Dubin-Johnson syndrome and its animal model, the TR(-) rat, are characterized by a chronic conjugated hyperbilirubinemia. TR(-) rats are defective in the canalicular multispecific organic anion transporter (cMOAT), which mediates hepatobiliary excretion of numerous organic anions. The complementary DNA for rat cmoat, a homolog of the human multidrug resistance gene (hMRP1), was isolated and shown to be expressed in the canalicular membrane of hepatocytes. In the TR(-) rat, a single-nucleotide deletion in this gene resulted in a reduced messenger RNA level and absence of the protein. It is likely that this mutation accounts for the TR(-) phenotype.



Disease Annotations    
Dubin-Johnson syndrome  (IAGP,IMP,ISO)

Gene Ontology Annotations    

Biological Process

Molecular Function

Objects Annotated

Genes (Rattus norvegicus)
Abcc2  (ATP binding cassette subfamily C member 2)

Genes (Mus musculus)
Abcc2  (ATP-binding cassette, sub-family member 2)

Genes (Homo sapiens)
ABCC2  (ATP binding cassette subfamily C member 2)

Strains
WUN-Abcc2TR-/HsdRrrc  (NA)

Objects referenced in this article
Gene Hoxb13 homeobox B13 Mus musculus
Gene Abcb4 ATP binding cassette subfamily B member 4 Rattus norvegicus
Gene Abcc2TR- ATP binding cassette subfamily C member 2;transport deficient mutant , Rattus norvegicus

Additional Information