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Allele : Nphs2<tm2.1Antc> nephrosis 2, podocin; targeted mutation 2.1, Corinne Antignac

Primary Identifier  MGI:4360671 Allele Type  Targeted
Gene  Nphs2 Transmission  Germline
Strain of Origin  129S2/SvPas Is Recombinase  false
Is Wild Type  false
molecularNote  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.
  • mutations:
  • Nucleotide substitutions,
  • Insertion
  • synonyms:
  • Nphs2<R140Q>,
  • Nphs2<R140Q>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

6 Publication categories

Trail: Allele