Cep57^em1Jvd
Endonuclease-mediated Allele Detail

Summary

• Symbol: Cep57^em1Jvd
• Name: centrosomal protein 57; endonuclease-mediated mutation 1, Jan M A van Deursen
• MGI ID: MGI:6208802
• Synonyms: Cep57^T
• Gene: Cep57 Location: Chr9:13719088-13738403 bp, - strand Genetic Position: Chr9, 3.49 cM, cytoband A2
• Alliance: Cep57^em1Jvd page

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 details: TALEN 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)

Expression

In Structures Affected by this Mutation:

5 anatomical structure(s)

Tumor Data

List all tumor models in MMHCdb carrying Cep57^em1Jvd

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: 36 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)