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Nphs2tm2.1Antc
Targeted Allele Detail
Nomenclature
Symbol: Nphs2tm2.1Antc
Name: nephrosis 2, podocin; targeted mutation 2.1, Corinne Antignac
MGI ID: MGI:4360671
Synonyms: Nphs2R140Q
Gene: Nphs2  Location: Chr1:156138297-156155605 bp, + strand  Genetic Position: Chr1, 67.71 cM, cytoband G3
Nphs2tm2.1Antc/Nphs2tm3.1Antc Tg(CAG-cre/Esr1*)86Lbgn/0 mice develop focal-segmental glomerulosclerosis

Show the 3 phenotype image(s) involving this allele.

Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:152878
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129S2/SvPas
Mutation
description
Allele Type:    Targeted
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsTwo nucleotide substitutions (c.505G>A, c.506A>G) were inserted into exon 3 and a floxed pgk-hygromycin resistance cassette was inserted into intron 3 via homologous recombination. The hygromycin resistance cassette was then removed via Cre mediated recombination. Northern blot and real time PCR analysis indicate increased transcription compared to wild-type controls. Western blot analysis revealed decreased protein expression. Immunoflourescence analysis of podocytes from homozygous mutants indicates mislocalization of the mutant protein. (J:152878)
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: 12 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 Nphs2 Mutation:  22 strains or lines available
References
Original:  J:152878 Philippe A, et al., A missense mutation in podocin leads to early and severe renal disease in mice. Kidney Int. 2008 May;73(9):1038-47
All:  2 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
09/22/2022
MGI 6.21
The Jackson Laboratory