Cenpj^{tm1a(EUCOMM)Wtsi}
Targeted Allele Detail

Summary

• Symbol: Cenpj^{tm1a(EUCOMM)Wtsi}
• Name: centromere protein J; targeted mutation 1a, Wellcome Trust Sanger Institute
• MGI ID: MGI:4432238
• Gene: Cenpj Location: Chr14:56764218-56812882 bp, - strand Genetic Position: Chr14, 28.28 cM
• Alliance: Cenpj^{tm1a(EUCOMM)Wtsi} page
• IMPC: Cenpj gene page

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 details: The L1L2_gt1 cassette was inserted at position 56792283 of Chromosome 14 upstream of the critical exon(s) (Build GRCm39). 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 56793168. 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)

Disease models

Expression

In Structures Affected by this Mutation:

25 anatomical structure(s)

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: 44 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: 12 reference(s)