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Pkhd1tm1Rbu
Targeted Allele Detail
Nomenclature
Symbol: Pkhd1tm1Rbu
Name: polycystic kidney and hepatic disease 1; targeted mutation 1, Reinhard Buettner
MGI ID: MGI:3664756
Synonyms: Pkhd1-
Gene: Pkhd1  Location: Chr1:20057779-20618064 bp, - strand  Genetic Position: Chr1, 6.27 cM, cytoband A2-A5
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:112509
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutation:    Disruption caused by insertion of vector
 
Mutation detailsA lacZ-pgk-neo disrupted exon 40. Mutants expressed a protein resulting from transcrtipts completely skipping exon 40 including the lacZ. Amino acids 2160-2223 were deleted in-frame. No lacZ staining is seen in homozygous or heterozygous mice. (J:112509)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 2 anatomical structures
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 Pkhd1 Mutation:  150 strains or lines available
References
Original:  J:112509 Moser M, et al., A mouse model for cystic biliary dysgenesis in autosomal recessive polycystic kidney disease (ARPKD). Hepatology. 2005 May;41(5):1113-21
All:  1 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
07/10/2018
MGI 6.12
The Jackson Laboratory