Ccdc28b^em1Jlba
Endonuclease-mediated Allele Detail

Summary

• Symbol: Ccdc28b^em1Jlba
• Name: coiled coil domain containing 28B; endonuclease-mediated mutation 1, Jose L Badano
• MGI ID: MGI:7576205
• Gene: Ccdc28b Location: Chr4:129513067-129517740 bp, - strand Genetic Position: Chr4, 63.26 cM, cytoband D2.3
• Alliance: Ccdc28b^em1Jlba page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 technology targeting the 5 end of exon 3 generated two one base pair deletions, and is predicted to result in a frameshift and premature stop codon. Exon 3 is shared by all transcripts and coding isoforms. Real-time qPCR showed a reduction in mRNA levels, likely due to NMD-mediated degradation of premature stop codon containing mRNA. Western blot analysis shows absence of protein. (J:325766)

Expression

In Structures Affected by this Mutation:

2 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 Ccdc28b Mutation: 14 strains or lines available

References

• Original: J:325766 Fabregat M, et al., Generation and characterization of Ccdc28b mutant mice links the Bardet-Biedl associated gene with mild social behavioral phenotypes. PLoS Genet. 2022 Jun;18(6):e1009896
• All: 1 reference(s)