Runx1^em1Lhc
Endonuclease-mediated Allele Detail

Summary

• Symbol: Runx1^em1Lhc
• Name: runt related transcription factor 1; endonuclease-mediated mutation 1, Lucio H Castilla
• MGI ID: MGI:6356886
• Synonyms: Runx1^R188Q
• Gene: Runx1 Location: Chr16:92398354-92622962 bp, - strand Genetic Position: Chr16, 53.7 cM
• Alliance: Runx1^em1Lhc page

Mutation origin

• Strain of Origin: C57BL/6J C57BL/6N

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: Arginine codon 188 (CGA) in exon 4 was changed to glutamine (CAA) (p.R188Q) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. The mutation, in the DNA-binding domain (RUNT homology domain (RHD)) of the encoded protein, is the equivalent of the human p.R201Q mutation associated with familial platelet disorder with associated hematopoietic malignancy (FPDHM or FPDMM, OMIM601399). In mice carrying this allele it leads to bone marrow inflammation, reduced DNA-damage response activity, and, in conjunction with other mutations, predisposition to developing hematopoietic tumors. (J:380963)

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 Runx1 Mutation: 34 strains or lines available

References

• Original: J:380963 Ahmad MH, et al., Runx1-R188Q germ line mutation induces inflammation and predisposition to hematologic malignancies in mice. Blood Adv. 2023 Dec 12;7(23):7304-7318
• All: 1 reference(s)