Nphs1^{Gt(pT1Betageo)1Ruiz}
Gene trapped Allele Detail

Summary

• Symbol: Nphs1^{Gt(pT1Betageo)1Ruiz}
• Name: nephrosis 1, nephrin; gene trap 1, Patricia Ruiz
• MGI ID: MGI:2678400
• Synonyms: mNeph^-, Nephrin^trap, W027B02
• Gene: Nphs1 Location: Chr7:30157740-30186648 bp, + strand Genetic Position: Chr7, 18.36 cM, cytoband A3
• Alliance: Nphs1^{Gt(pT1Betageo)1Ruiz} page

Mutation origin

• Mutant Cell Line: W027B02
• 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 (Null/knockout, Reporter)
• Mutation: Insertion of gene trap vector Vector Type: gene trap
• 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)

Disease models

Expression

In Structures Affected by this Mutation:

5 anatomical structure(s)

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: 70 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)