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Pkd1tm1Bdgz
Targeted Allele Detail
Nomenclature
Symbol: Pkd1tm1Bdgz
Name: polycystic kidney disease 1 homolog; targeted mutation 1, William Dackowski
MGI ID: MGI:3714781
Synonyms: Pkd1tm1Bdgz -
Gene: Pkd1  Location: Chr17:24549950-24596514 bp, + strand  Genetic Position: Chr17, 12.4 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:130086
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Mutation
description
Allele Type:    Targeted
Mutations:    Insertion, Inversion
 
Mutation detailsThe mutation is an inverted duplication of exons 12-15 in intron 26, followed by a duplication of exons 17-26. (J:130086)
Inheritance:    Semidominant
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 Pkd1 Mutation:  7 strains or lines available
References
Original:  J:130086 Natoli TA, et al., Pkd1 and Nek8 mutations affect cell-cell adhesion and cilia in cysts formed in kidney organ cultures. Am J Physiol Renal Physiol. 2008 Jan;294(1):F73-83
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
04/07/2015
MGI 5.21
The Jackson Laboratory