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Nphs1tm1Ktry
Targeted Allele Detail
Nomenclature
Symbol: Nphs1tm1Ktry
Name: nephrosis 1, nephrin; targeted mutation 1, Karl Tryggvason
MGI ID: MGI:2386182
Gene: Nphs1  Location: Chr7:30458315-30487223 bp, + strand  Genetic Position: Chr7, 18.36 cM, cytoband A3
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:66970
Parent Cell Line:  RW-4 (ES Cell)
Strain of Origin:  129X1/SvJ
Mutation
description
Allele Type:    Targeted (Null/knockout, Reporter)
Mutation:    Insertion
 
Mutation detailsA cassette containing lacZ and neo was inserted in frame into exon 1. While expression of beta-galactosidase was driven by the endogenous promoter, neither endogenous transcript nor protein was detected in homozygous mice by RT-PCR and Western blot analyses. (J:66970)
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: 7 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 Nphs1 Mutation:  51 strains or lines available
References
Original:  J:66970 Putaala H, et al., The murine nephrin gene is specifically expressed in kidney, brain and pancreas: inactivation of the gene leads to massive proteinuria and neonatal death. Hum Mol Genet. 2001 Jan 1;10(1):1-8
All:  3 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
10/15/2019
MGI 6.14
The Jackson Laboratory