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| Nomenclature |
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Symbol:
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Nphs1Gt(pT1Betageo)1Ruiz
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Name:
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nephrosis 1 homolog, nephrin (human);
gene trap 1, Patricia Ruiz
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MGI ID: |
MGI:2678400 |
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Synonyms: |
mNeph-, Nephrintrap, W027B02 |
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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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Mutant Cell Line:
| W027B02 (GGTC) |
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Germline Transmission:
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Earliest citation of germline transmission:
J:86048
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Parent Cell Line:
| C4R8 (ES Cell) |
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Strain of Origin:
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129P2/OlaHsd
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Mutation
description |
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Allele
Type: | |
Gene trapped |
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Mutation: | |
Insertion of gene trap vector Vector Type: gene trap |
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Mutation details: The endogenous locus was disrupted by the random insertion of a gene trap vector containing a splice acceptor site followed by Beta-geo and a polyadenylation signal into exon 8, which encodes the third Ig-motif. Sequencing identified a nonsense mutation 14 codons downstream of the vector insertion site. Protein was undetected in homozygous mutant mice by Western blot analysis of kidney extracts. (J:85162)
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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:85162
Hansen J et al.,
"A large-scale, gene-driven mutagenesis approach for the functional analysis of the mouse genome."
Proc Natl Acad Sci U S A 2003 Aug 19;100(17):9918-22
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All: |
4 reference(s)
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Analysis Tools
