Ndfip1^kru
Chemically induced Allele Detail

Summary

• Symbol: Ndfip1^kru
• Name: Nedd4 family interacting protein 1; krusty
• MGI ID: MGI:5442611
• Synonyms: ENU7PMH:130, Ndfip1⁰
• Gene: Ndfip1 Location: Chr18:38551960-38598250 bp, + strand Genetic Position: Chr18, 20.32 cM, cytoband B3
• Alliance: Ndfip1^kru page

Mutation origin

• Strain of Origin: C57BL/6JSfdAnu

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: An ENU-induced G to A transition at the first nucleotide of the fifth intron disrupts the mRNA splice donor sequence resulting in production of two aberrantly spliced transcripts that shift the translation reading frame and lead to premature termination codons truncating the protein either immediately before or after the first of the three transmembrane domains. Immunoblot analysis of activated T-cell lysates from homozygous mutant mice using a monoclonal antibody to an N-terminal peptide of the protein verified the absence of the ~27 kD wild-type protein and detected only trace levels of a ~20 kDa protein corresponding to the larger abnormally spliced mRNA encoding through the first transmembrane segment. (J:188722, J:206813)
• Inheritance: Recessive

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Ndfip1 Mutation: 14 strains or lines available

References

• Original: J:188722 Altin JA, et al., IL-10+ CTLA-4+ Th2 inhibitory cells form in a Foxp3-independent, IL-2-dependent manner from Th2 effectors during chronic inflammation. J Immunol. 2012 Jun 1;188(11):5478-88
• All: 3 reference(s)