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Targeted Allele Detail
Symbol: Abcb4tm1Bor
Name: ATP-binding cassette, sub-family B (MDR/TAP), member 4; targeted mutation 1, Piet Borst
MGI ID: MGI:1857236
Synonyms: mdr2-, Mdr2ko, mdr2neo1, Pgy2tm1Bor
Gene: Abcb4  Location: Chr5:8893721-8959225 bp, + strand  Genetic Position: Chr5, 3.43 cM
Germline Transmission:  Earliest citation of germline transmission: J:15531
Parent Cell Line:  E14 (ES Cell)
Strain of Origin:  129P2/OlaHsd
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
Mutation detailsA neomycin selection cassette replaced a genomic fragment containing exons 1 and 2. The translation initiation site is in exon 2. RNase proteiction assays indicated that mutant truncated transcripts are produced from this allele that contain exons 3-6 or 4-6. (J:15531)
View phenotypes for all genotypes (concatenated display).
Disease models
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Abcb4 Mutation:  2 strains or lines available

Phenotypic Similarity to Human Syndrome: Hepatic Osteodystrophy associated with Chronic Cholestatic Liver Disease J:199949.

Original:  J:15531 Smit JJ, et al., Homozygous disruption of the murine mdr2 P-glycoprotein gene leads to a complete absence of phospholipid from bile and to liver disease. Cell. 1993 Nov 5;75(3):451-62
All:  55 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 5.21
The Jackson Laboratory