Nphs2^tm2.1Antc
Targeted Allele Detail

Summary

• Symbol: Nphs2^tm2.1Antc
• Name: nephrosis 2, podocin; targeted mutation 2.1, Corinne Antignac
• MGI ID: MGI:4360671
• Synonyms: Nphs2^R140Q
• Gene: Nphs2 Location: Chr1:156138297-156155605 bp, + strand Genetic Position: Chr1, 67.71 cM, cytoband G3
• Alliance: Nphs2^tm2.1Antc page

Nphs2^tm2.1Antc/Nphs2^tm3.1Antc Tg(CAG-cre/Esr1*)86Lbgn/0 mice develop focal-segmental glomerulosclerosis

Show the 3 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:152878
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129S2/SvPas

Mutation description

• Allele Type: Targeted
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: Two nucleotide substitutions (c.505G>A, c.506A>G) were inserted into exon 3 and a floxed pgk-hygromycin resistance cassette was inserted into intron 3 via homologous recombination. The hygromycin resistance cassette was then removed via Cre mediated recombination. Northern blot and real time PCR analysis indicate increased transcription compared to wild-type controls. Western blot analysis revealed decreased protein expression. Immunoflourescence analysis of podocytes from homozygous mutants indicates mislocalization of the mutant protein. (J:152878)

Disease models

Expression

In Structures Affected by this Mutation:

11 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 Nphs2 Mutation: 30 strains or lines available

References

• Original: J:152878 Philippe A, et al., A missense mutation in podocin leads to early and severe renal disease in mice. Kidney Int. 2008 May;73(9):1038-47
• All: 3 reference(s)