Nphs1^tm1.1Njns
Targeted Allele Detail

Summary

• Symbol: Nphs1^tm1.1Njns
• Name: nephrosis 1, nephrin; targeted mutation 1.1, Nina Jones
• MGI ID: MGI:7624348
• Synonyms: Nephrin^Y3F, Nphs1^Tm1.1
• Gene: Nphs1 Location: Chr7:30157740-30186648 bp, + strand Genetic Position: Chr7, 18.36 cM, cytoband A3
• Alliance: Nphs1^tm1.1Njns page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:287724
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6J x 129S6/SvEvTac

Mutation description

• Allele Type: Targeted (Not Applicable)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: 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. (J:287724)

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:287724 New LA, et al., Nephrin Tyrosine Phosphorylation Is Required to Stabilize and Restore Podocyte Foot Process Architecture. J Am Soc Nephrol. 2016 Aug;27(8):2422-35
• All: 4 reference(s)