Nphs1^tm1Ktry
Targeted Allele Detail

Summary

• Symbol: Nphs1^tm1Ktry
• Name: nephrosis 1, nephrin; targeted mutation 1, Karl Tryggvason
• MGI ID: MGI:2386182
• Gene: Nphs1 Location: Chr7:30157740-30186648 bp, + strand Genetic Position: Chr7, 18.36 cM, cytoband A3
• Alliance: Nphs1^tm1Ktry page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:66970
• Parent Cell Line: RW-4 (ES Cell)
• Strain of Origin: 129X1/SvJ

Mutation description

• Allele Type: Targeted (Null/knockout, Reporter)
• Mutation: Insertion
• 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)

Disease models

Expression

In Mice Carrying this Mutation:	15 assay results
In Structures Affected by this Mutation:	6 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: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
• All: 3 reference(s)