Rr510^em1Mwil
Endonuclease-mediated Allele Detail

Summary

• Symbol: Rr510^em1Mwil
• Name: regulatory region 510; endonuclease-mediated mutation 1, Megan Wilson
• MGI ID: MGI:7709764
• Synonyms: AIS-CRMdelta
• Gene: Rr510 Location: unknown Genetic Position: Chr19, Syntenic
• Alliance: Rr510^em1Mwil page

Mutation origin

• Strain of Origin: Not Applicable

Mutation description

• Allele Type: Endonuclease-mediated (Modified regulatory region)
• Mutation: Intergenic deletion
• Mutation details: The Lbx1 silencer was targeted with sgRNAs (equivalent to CTGAAAGAATTATATGGAG and TAGTTGATAATTCTGCCAG) using CRISPR/Cas9 technology, resulting in a 189 bp deletion (GRCm39:chr19:45214265-45214453). The targeted region is conserved between mouse and human and contains human adolescent idiopathic scoliosis (AIS)-associated SNP rs11190870. (J:350459)

Expression

In Structures Affected by this Mutation:

1 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 Rr510 Mutation: 0 strains or lines available

References

• Original: J:350459 McCallum-Loudeac J, et al., Deletion of a conserved genomic region associated with adolescent idiopathic scoliosis leads to vertebral rotation in mice. Hum Mol Genet. 2024 Apr 18;33(9):787-801
• All: 1 reference(s)