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| Nomenclature |
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Symbol:
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Nphs1tm1Ktry
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Name:
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nephrosis 1 homolog, nephrin (human);
targeted mutation 1, Karl Tryggvason
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MGI ID: |
MGI:2386182 |
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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:66970
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Parent Cell Line:
| RW-4 (ES Cell) |
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Strain of Origin:
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129X1/SvJ
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Mutation
description |
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Allele
Type: | |
Targeted (Reporter) |
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Mutation: | |
Insertion |
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Mutation details: A 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)
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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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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Nphs1 Mutation:
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18 strains or lines available |
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| References |
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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
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All: |
3 reference(s)
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Analysis Tools
