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Nphs1tm1Rkl
Targeted Allele Detail
Nomenclature
Symbol: Nphs1tm1Rkl
Name: nephrosis 1, nephrin; targeted mutation 1, Raghu Kalluri
MGI ID: MGI:2386960
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:78616
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129/Sv
Mutation
description
Allele Type:    Targeted (Null/knockout, Reporter)
Mutations:    Insertion, Intragenic deletion
 
Mutation details
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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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:  18 strains or lines available
Notes
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)

References
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:  2 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
08/12/2014
MGI 5.19
The Jackson Laboratory