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Pcsk5tm1.1Prat
Targeted Allele Detail
Nomenclature
Symbol: Pcsk5tm1.1Prat
Name: proprotein convertase subtilisin/kexin type 5; targeted mutation 1.1, Annik Prat
MGI ID: MGI:3612544
Synonyms: Pcsk5delta4
Gene: Pcsk5  Location: Chr19:17432832-17837632 bp, - strand  Genetic Position: Chr19, 12.86 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:104195
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutation:    Intragenic deletion
 
Mutation detailsCre-mediated excision removed exon 4, an exon encoding one of the three catalytic residues, the Asp173 that is essiential for enzyme activity. QPCR and sequencing confirmed that exons 3 and 5 were fused in the mutant allele. A truncated form of the protein was produced from the allele. (J:104195)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Mice Carrying this Mutation: 2 assay results
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 Pcsk5 Mutation:  55 strains or lines available
References
Original:  J:104195 Essalmani R, et al., Deletion of the gene encoding proprotein convertase 5/6 causes early embryonic lethality in the mouse. Mol Cell Biol. 2006 Jan;26(1):354-61
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
09/11/2018
MGI 6.12
The Jackson Laboratory