Yipf6^M1Btlr
Chemically induced Allele Detail

Summary

• Symbol: Yipf6^M1Btlr
• Name: Yip1 domain family, member 6; mutation 1, Bruce Beutler
• MGI ID: MGI:4839074
• Synonyms: Klein-Zschocher, Klz
• Gene: Yipf6 Location: ChrX:97979922-97992623 bp, + strand Genetic Position: ChrX, 43.19 cM, cytoband C2
• Alliance: Yipf6^M1Btlr page

Mice hemizygous or homozygous for Yipf6^M1Btlr show increased susceptibility to induced colitis

Show the 5 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: Beutler Mutagenetix

Mutation description

Allele Type: Chemically induced (ENU) Mutation: Single point mutation Mutation details: The mutation has been identified as a T to A transversion at nucleotide position 3002 of the genomic DNA sequence (GenBank accession NC_000086.6, NCBI Build 37.1). It lies in the splice acceptor site of the third intron. The affected thymine resides five nucleotides from the next exon, the fourth of the gene's seven exons. cDNA sequence analysis revealed that the mutation results in skipping of exon 4, a frameshift, and and premature termination of translation after amino acid 88 of the normally 236 amino acid protein. (J:187584) Additional incidental mutations were detected in sequencing for the causative mutation, Yipf6^M1Btlr, and may be present in stocks carrying this mutation. Inheritance: Dominant

Mutation in the Yipf6^M1Btlr allele

Expression

In Structures Affected by this Mutation:

5 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Yipf6 Mutation: 7 strains or lines available

References

• Original: J:187584 Brandl K, et al., Yip1 domain family, member 6 (Yipf6) mutation induces spontaneous intestinal inflammation in mice. Proc Natl Acad Sci U S A. 2012 Jul 31;109(31):12650-5
• All: 2 reference(s)