Zbtb24^tm1.1Ics
Targeted Allele Detail

Summary

• Symbol: Zbtb24^tm1.1Ics
• Name: zinc finger and BTB domain containing 24; targeted mutation 1.1, Mouse Clinical Institute
• MGI ID: MGI:8282434
• Synonyms: Zbtb24^mt
• Gene: Zbtb24 Location: Chr10:41326379-41341570 bp, + strand Genetic Position: Chr10, 22.38 cM
• Alliance: Zbtb24^tm1.1Ics page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:378384
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Two nucleotides (TA) were deleted from histidine codon 132 and serine codon 133 (CAtaGC) (c.396_397del) in exon 2, leading to a frameshift and premature stop codon (p.H132Qfs*21). A loxP site flanked neomynic resistance gene and protamine-promotor-driven cre gene cassette auto-excised from intron 2. The mutation is the equivalent of a human mutation associated with ICF2 syndrome (Immunodeficiency with Centromeric instability and Facial anomalies 2; MIM #614069). (J:378384)

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: 0 lines available
• Carrying any Zbtb24 Mutation: 38 strains or lines available

References

• Original: J:378384 Grillo G, et al., ZBTB24 is a conserved multifaceted transcription factor at genes and centromeres that governs the DNA methylation state and expression of satellite repeats. Hum Mol Genet. 2025 Jan 29;34(2):161-177
• All: 1 reference(s)