Fnip1^m1Btlr
Chemically induced Allele Detail

Summary

• Symbol: Fnip1^m1Btlr
• Name: folliculin interacting protein 1; mutation 1, Bruce Beutler
• MGI ID: MGI:5806459
• Synonyms: hamel
• Gene: Fnip1 Location: Chr11:54329025-54409061 bp, + strand Genetic Position: Chr11, 32.13 cM
• Alliance: Fnip1^m1Btlr page

Mutation origin

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

Mutation description

• Allele Type: Chemically induced (ENU) (Not Specified)
• Mutation: Single point mutation
• Mutation details: ENU-induced G to A transition at base pair 54,294,187 on chromosome 11 in the Genbank genomic region NC_000077.5. The mutation is within the donor splice site in intron 5, one nucleotide after exon 5 (out of 18 total exons). Western blot analysis detected a larger than normal protein product. (J:234285)
• Inheritance: Recessive

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: 0 strains available Cell Lines: 0 lines available
• Carrying any Fnip1 Mutation: 60 strains or lines available

References

• Original: J:234285 Siggs OM, et al., Mutation of Fnip1 is associated with B-cell deficiency, cardiomyopathy, and elevated AMPK activity. Proc Natl Acad Sci U S A. 2016 Jun 28;113(26):E3706-15
• All: 2 reference(s)