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Cep57em1Jvd
Endonuclease-mediated Allele Detail
Nomenclature
Symbol: Cep57em1Jvd
Name: centrosomal protein 57; endonuclease-mediated mutation 1, Jan M A van Deursen
MGI ID: MGI:6208802
Synonyms: Cep57T
Gene: Cep57  Location: Chr9:13807792-13827107 bp, - strand  Genetic Position: Chr9, 3.49 cM, cytoband A2
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:264300
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Endonuclease-mediated (Humanized sequence, Hypomorph)
Mutation:    Intragenic deletion
 
Mutation detailsTALEN targeting inserted a donor template consisting of a 11 bp (CAATGTTCAGC) duplication in exon 9 along with a floxed neomycin selection cassette inserted 5' of exon 9. This duplication is present in a subset of mosaic-variegated aneuploidy (MVA) patients and truncates the protein. (J:264300)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 5 anatomical structures
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 Cep57 Mutation:  12 strains or lines available
Notes
Lentiviral gene trap injected into zygotes.
References
Original:  J:264300 Aziz K, et al., Mosaic-variegated aneuploidy syndrome mutation or haploinsufficiency in Cep57 impairs tumor suppression. J Clin Invest. 2018 Aug 1;128(8):3517-3534
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
06/30/2020
MGI 6.15
The Jackson Laboratory