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Cenpjtm1a(EUCOMM)Wtsi
Targeted Allele Detail
Nomenclature
Symbol: Cenpjtm1a(EUCOMM)Wtsi
Name: centromere protein J; targeted mutation 1a, Wellcome Trust Sanger Institute
MGI ID: MGI:4432238
Gene: Cenpj  Location: Chr14:56526761-56575425 bp, - strand  Genetic Position: Chr14, 28.28 cM
Generation of a mouse model of CENPJ-Seckel syndrome.

Show the 3 phenotype image(s) involving this allele.

Mutation
origin
Mutant Cell Lines:  EPD0028_7_A05, EPD0028_7_A06, EPD0028_7_C06, EPD0028_7_D04, EPD0028_7_E04, EPD0028_7_E05, EPD0028_7_E06, EPD0028_7_F05, EPD0028_7_G04, EPD0028_7_G05, EPD0028_7_G06, EPD0028_7_H04, EPD0028_7_H06
Germline Transmission:  Earliest citation of germline transmission: J:175295
Parent Cell Line:  JM8.N4 (ES Cell)
Strain of Origin:  C57BL/6N
Project Collection: EUCOMM
Mutation
description
Allele Type:    Targeted (Conditional ready, Hypomorph, Null/knockout, Reporter)
Mutation:    Insertion     Vector: L1L2_gt1
 
Mutation detailsThe L1L2_gt1 cassette was inserted at position 56555711 of Chromosome 14 upstream of the critical exon(s) (Build GRCm38). The cassette is composed of an FRT flanked lacZ/neomycin sequence followed by a loxP site. An additional loxP site is inserted downstream of the targeted exon(s) at position 56554826. The critical exon(s) is/are thus flanked by loxP sites. A "conditional ready" (floxed) allele can be created by flp recombinase expression in mice carrying this allele. Subsequent cre expression results in a knockout mouse. If cre expression occurs without flp expression, a reporter knockout mouse will be created. Further information on targeting strategies used for this and other IKMC alleles can be found at http://www.informatics.jax.org/mgihome/nomen/IKMC_schematics.shtml (J:155845, J:173534, J:194085)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 28 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 1 line available
Carrying any Cenpj Mutation:  29 strains or lines available
Notes
Special note about mutant cell line EPD0028_7_G05: The mutation generated in this ES cell line results in a hypomorphic allele. A low but detectable amount of splicing over the gene-trap cassette was observed in MEFs derived from mutant mice (2.16% of wild-type exon 4-5 levels); immunoblotting confirmed expression of low levels of apparently full-length encoded protein.
References
Original:  J:155845 Wellcome Trust Sanger Institute, Alleles produced for the EUCOMM and EUCOMMTools projects by the Wellcome Trust Sanger Institute. MGI Direct Data Submission. 2010;
All:  11 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
10/15/2019
MGI 6.14
The Jackson Laboratory