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Cenpfem2Bko
Endonuclease-mediated Allele Detail
Summary
Symbol: Cenpfem2Bko
Name: centromere protein F; endonuclease-mediated mutation 2, Benoit Kornmann
MGI ID: MGI:6287440
Synonyms: cenpf[p.G2871fsX33]BKL, MUT1
Gene: Cenpf  Location: Chr1:189372803-189420283 bp, - strand  Genetic Position: Chr1, 95.03 cM
Alliance: Cenpfem2Bko page
Mutation
origin
Strain of Origin:  (C57BL/6 x DBA/2)F1
Mutation
description
Allele Type:    Endonuclease-mediated (Not Applicable)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsCRISPR/Cas9 technology generated a 2 bp deletion with a 4 bp insertion at the very beginning of exon 17 resulting in a frameshift starting from residue G2871 which is expected to result in truncation of the last two exons which encode the C-terminal microtubule-binding domain and the farnesylation motif. Western blot analysis with an antibody against the C-terminus confirmed that the C-terminus is missing. Western blot with an antibody against an epitope upstream of the truncation show reduced protein levels. However, quantitative RT-PCR did not detect differences in mRNA levels, indicating that protein is destabilized. (J:273098)
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 Cenpf Mutation:  109 strains or lines available
References
Original:  J:273098 Peterka M, et al., Miro-dependent mitochondrial pool of CENP-F and its farnesylated C-terminal domain are dispensable for normal development in mice. PLoS Genet. 2019 Mar;15(3):e1008050
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