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Fnip1M3Btlr
Chemically induced Allele Detail
Summary
Symbol: Fnip1M3Btlr
Name: folliculin interacting protein 1; mutation 3, Bruce Beutler
MGI ID: MGI:6285877
Synonyms: Normandy
Gene: Fnip1  Location: Chr11:54329025-54409061 bp, + strand  Genetic Position: Chr11, 32.13 cM
Alliance: Fnip1M3Btlr 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 detailsENU-induced T to A transversion at base pair 54,493,181 (v38) on chromosome 11, or base pair 55,037 in the GenBank genomic region NC_000077 within intron 9, 12-base pairs from exon 10 (out of 18 total exons). The effect of the mutation at the cDNA and protein levels has not been examined, but the mutation is predicted to not affect splicing. In case the mutation does affect splicing, the most likely aberrant splicing would result in skipping of the 202-base pair exon 10. The mutation would cause a frame-shifted protein product beginning after amino acid 305 of the protein, which is normally 1,165 amino acids in length, and termination after the inclusion of one aberrant amino acid. (J:272802)
Inheritance:    Dominant
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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
Notes
https://mutagenetix.utsouthwestern.edu/phenotypic/phenotypic_rec.cfm?pk=3746
References
Original:  J:272802 Zhong X, et al., Mutagenetix entry for Normandy. MGI Direct Data Submission. 2019;
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory