Thoc2^em1Gecz
Endonuclease-mediated Allele Detail

Summary

• Symbol: Thoc2^em1Gecz
• Name: THO complex 2; enonuclease-mediated mutation 1, Jozef Gecz
• MGI ID: MGI:7711300
• Synonyms: Thoc2^delta
• Gene: Thoc2 Location: ChrX:40883869-41000878 bp, - strand Genetic Position: ChrX, 23.19 cM
• Alliance: Thoc2^em1Gecz page

Mutation origin

• Strain of Origin: C57BL/6JArc

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence, Hypomorph)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/cas9 mediated recombination using guide RNAs targeting introns 36 and 38 created a deletion removing exons 37 and 38. The deletion is in-frame and produces a truncated protein that is expressed at higher levels compared to full length wild-type protein in controls. The deletion is homologous to one seen in human patients. (J:345229)

Disease models

Expression

In Structures Affected by this Mutation:

10 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 Thoc2 Mutation: 6 strains or lines available

References

• Original: J:345229 Bhattacharjee R, et al., Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopment. Nat Commun. 2024 Feb 8;15(1):1210
• All: 1 reference(s)