Ccdc6^tm1Afus
Targeted Allele Detail

Summary

• Symbol: Ccdc6^tm1Afus
• Name: coiled-coil domain containing 6; targeted mutation 1, Alfredo Fusco
• MGI ID: MGI:6714085
• Synonyms: Ccdc6^-ex2
• Gene: Ccdc6 Location: Chr10:69932951-70029030 bp, + strand Genetic Position: Chr10, 36.68 cM
• Alliance: Ccdc6^tm1Afus page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:301625
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129

Mutation description

• Allele Type: Targeted (Not Applicable)
• Mutations: Insertion, Intragenic deletion
• Mutation details: An approximate 12 kb genomic region containing exon 2 was replaced with a neomycin-resistance cassette in the opposite transcriptional orientation of the endogenous gene. RT-PCR analysis confirmed the presence of an exon 2 deleted transcript and Western blot shows the expression of a truncated protein. The deletion of exon 2 which contains the coiled-coil domain results in increased CREB1 transcriptional activity. (J:301625)

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

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 Ccdc6 Mutation: 19 strains or lines available

References

• Original: J:301625 Leone V, et al., Ccdc6 knock-in mice develop thyroid hyperplasia associated to an enhanced CREB1 activity. Oncotarget. 2015 Jun 20;6(17):15628-38
• All: 1 reference(s)