Zbtb40^em1Clab
Endonuclease-mediated Allele Detail

Summary

• Symbol: Zbtb40^em1Clab
• Name: zinc finger and BTB domain containing 40; endonuclease-mediated mutation 1, Cheryl Ackert-Bicknell
• MGI ID: MGI:6454063
• Synonyms: Zbtb40^mut
• Gene: Zbtb40 Location: Chr4:136707043-136776112 bp, - strand Genetic Position: Chr4, 69.05 cM
• Alliance: Zbtb40^em1Clab page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: An insertion/deletion mutation was created in the second coding exon of the gene to induce a premature stop codon, limiting full translation of the generated transcript. The translated protein is truncated at the N-terminus by 76 amino acids, lacking the majority of the BTB (protein-protein interaction) domain, with the remainder of the protein intact. This has been confirmed by DNA and RNA sequencing as well as Western blot analysis of protein products. (J:293133)

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 Zbtb40 Mutation: 46 strains or lines available

References

• Original: J:293133 Doolittle ML, et al., Genetic analysis of osteoblast activity identifies Zbtb40 as a regulator of osteoblast activity and bone mass. PLoS Genet. 2020 Jun;16(6):e1008805
• All: 1 reference(s)