Nphs1^tm1Rkl
Targeted Allele Detail

Summary

• Symbol: Nphs1^tm1Rkl
• Name: nephrosis 1, nephrin; targeted mutation 1, Raghu Kalluri
• MGI ID: MGI:2386960
• Gene: Nphs1 Location: Chr7:30157740-30186648 bp, + strand Genetic Position: Chr7, 18.36 cM, cytoband A3
• Alliance: Nphs1^tm1Rkl page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:78616
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129/Sv

Mutation description

• Allele Type: Targeted (Null/knockout, Reporter)
• Mutations: Insertion, Intragenic deletion
• Mutation details: 34 bp surrounding the translational start codon in exon 1 (-1 through +33) were replaced with a GFP-neo cassette inserted via homologous recombination. Expression of GFP was observed in both homozygous and heterozygous mutant mice. (J:78616)

Disease models

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Nphs1 Mutation: 70 strains or lines available

Notes

Immunohistochemical and western blot analyses of kidneys of homozygous newborn mice demonstrated absence of nephrin protein. No alteration was observed in expression of any glomerular basement membrane (GBM) or glomerular epithelial slit diaphragm (GESD) protein other than nephrin; proteins analyzed included integrin alpha3, podocin, alpha actinin 4, CD2AP, synaptopodin, nephronectin and type IV collagens alpha3, alpha4 and alpha5. (J:78616)

References

• Original: J:78616 Hamano Y, et al., Determinants of vascular permeability in the kidney glomerulus. J Biol Chem. 2002 Aug 23;277(34):31154-62
• All: 4 reference(s)