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Targeted Allele Detail
Symbol: Nphs1tm1Rkl
Name: nephrosis 1, nephrin; targeted mutation 1, Raghu Kalluri
MGI ID: MGI:2386960
Gene: Nphs1  Location: Chr7:30157740-30186648 bp, + strand  Genetic Position: Chr7, 18.36 cM, cytoband A3
Germline Transmission:  Earliest citation of germline transmission: J:78616
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129/Sv
Allele Type:    Targeted (Null/knockout, Reporter)
Mutations:    Insertion, Intragenic deletion
Mutation details34 bp surrounding the translational start codon in exon 1 (-1 through +33) were replaced with a GFP-neo cassette inserted via homologous recombination. Expression of GFP was observed in both homozygous and heterozygous mutant mice. (J:78616)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 2 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Nphs1 Mutation:  52 strains or lines available
Immunohistochemical and western blot analyses of kidneys of homozygous newborn mice demonstrated absence of nephrin protein. No alteration was observed in expression of any glomerular basement membrane (GBM) or glomerular epithelial slit diaphragm (GESD) protein other than nephrin; proteins analyzed included integrin alpha3, podocin, alpha actinin 4, CD2AP, synaptopodin, nephronectin and type IV collagens alpha3, alpha4 and alpha5. (J:78616)
Original:  J:78616 Hamano Y, et al., Determinants of vascular permeability in the kidney glomerulus. J Biol Chem. 2002 Aug 23;277(34):31154-62
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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MGI 6.21
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