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Nphs1Gt(pT1Betageo)1Ruiz
Gene trapped Allele Detail
Nomenclature
Symbol: Nphs1Gt(pT1Betageo)1Ruiz
Name: nephrosis 1, nephrin; gene trap 1, Patricia Ruiz
MGI ID: MGI:2678400
Synonyms: mNeph-, Nephrintrap, W027B02
Gene: Nphs1  Location: Chr7:30458315-30487223 bp, + strand  Genetic Position: Chr7, 18.36 cM, cytoband A3
Mutation
origin
Mutant Cell Line:  W027B02 (GGTC)
Germline Transmission:  Earliest citation of germline transmission: J:86048
Parent Cell Line:  C4R8 (ES Cell)
Strain of Origin:  129P2/OlaHsd
Mutation
description
Allele Type:    Gene trapped
Mutation:    Insertion of gene trap vector     Vector Type: gene trap
 
Mutation detailsThe 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)
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: 0 strains available      Cell Lines: 0 lines available
Carrying any Nphs1 Mutation:  18 strains or lines available
References
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
All:  4 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
01/20/2015
MGI 5.21
The Jackson Laboratory