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Ppp3r1tm1.1Jhon
Targeted Allele Detail
Summary
Symbol: Ppp3r1tm1.1Jhon
Name: protein phosphatase 3, regulatory subunit B, alpha isoform (calcineurin B, type I); targeted mutation 1.1, Jiang Hong
MGI ID: MGI:6490502
Gene: Ppp3r1  Location: Chr11:17109298-17150380 bp, + strand  Genetic Position: Chr11, 9.71 cM, cytoband A3.1
Alliance: Ppp3r1tm1.1Jhon page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:298603
Parent Cell Line:  B6/BLU (ES Cell)
Strain of Origin:  C57BL/6NTac-Tg(HBB-lacZ)ALey/Ley
Mutation
description
Allele Type:    Targeted (Humanized sequence)
Mutations:    Insertion, Single point mutation
 
Mutation detailsAn A to C change at position 305 resulting in an aspartate to alanine substitution at amino acid 102 (p.D102A) was introduced into exon 4. In addition, a loxP-flanked neomycin selection cassette was inserted between exon 3 and 4, which was removed via cre-mediated recombination. The p.D102A variant was detected in a proband with dilated cardiomyopathy. (J:298603)
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: 4 anatomical structure(s)
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 Ppp3r1 Mutation:  30 strains or lines available
References
Original:  J:298603 Jinqiang Zhuang MD, et al., The CnB1 p.D102A variant is linked to dilated cardiomyopathy via impaired Calcineurin activity. J Mol Cell Cardiol. 2020 Aug 31;148:15-24
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
04/16/2024
MGI 6.23
The Jackson Laboratory