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Allele : Nphs1<tm1.1Njns> nephrosis 1, nephrin; targeted mutation 1.1, Nina Jones

Primary Identifier  MGI:7624348 Allele Type  Targeted
Gene  Nphs1 Transmission  Germline
Strain of Origin  C57BL/6J x 129S6/SvEvTac Is Recombinase  false
Is Wild Type  false
molecularNote  Tyrosine codons 1191 (TAT) and 1208 (TAT) in exon 28 and 1232 (TAC) in exon 29 were changed to phenylalanine (TTT, TTT, TTC) (p.Y1191F, p.Y1208F, p.Y1232F) and a loxP site flanked neomycin resistance gene cassette was inserted into intron 28. The neo cassette was removed through subsequent Cre-mediated recombination. The mutations block phosphorylation of the affected residues in the encoded peptide.
  • mutations:
  • Insertion,
  • Nucleotide substitutions
  • synonyms:
  • Nephrin<Y3F>,
  • Nephrin<Y3F>,
  • Nphs1<Tm1.1>,
  • Nphs1<Tm1.1>
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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

4 Publication categories

Trail: Allele