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| Nomenclature |
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Symbol:
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Nphs1tm1Rkl
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Name:
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nephrosis 1 homolog, nephrin (human);
targeted mutation 1, Raghu Kalluri
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MGI ID: |
MGI:2386960 |
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Gene:
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Nphs1
Location:
Chr7:30458315-30487223 bp, + strand
Genetic Position: Chr7,
18.36 cM, cytoband A3
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:78616
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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129/Sv
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Mutation
description |
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Allele
Type: | |
Targeted (Reporter) |
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Mutation: | |
Disruption caused by insertion of vector |
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Mutation details: 34 bp surrounding the translational start codon in exon 1 (-1 through +33) were deleted by the insertion of a GFP-neo cassette inserted via homologous recombination. Expression of GFP was observed in both homozygous and heterozygous mutant mice. (J:78616)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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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)
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| References |
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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
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All: |
1 reference(s)
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Analysis Tools
