Fnip1M3Btlr
Chemically induced Allele Detail
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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
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Alliance: |
Fnip1M3Btlr page
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Strain of Origin: |
C57BL/6J
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Project Collection: |
Beutler Mutagenetix
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Allele Type: |
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Chemically induced (ENU) (Not Specified) |
Mutation: |
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Single point mutation
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Mutation details: ENU-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)
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Inheritance: |
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Dominant |
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View phenotypes and curated references for all genotypes (concatenated display).
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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
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Carrying any Fnip1 Mutation: |
60 strains or lines available
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https://mutagenetix.utsouthwestern.edu/phenotypic/phenotypic_rec.cfm?pk=3746
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Original: |
J:272802 Zhong X, et al., Mutagenetix entry for Normandy. MGI Direct Data Submission. 2019; |
All: |
1 reference(s) |
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