Rr504^em5Takas
Endonuclease-mediated Allele Detail

Summary

• Symbol: Rr504^em5Takas
• Name: regulatory region 504; endonuclease-mediated mutation 5, Shuji Takada
• MGI ID: MGI:7787037
• Synonyms: mXYSRa^-
• Gene: Rr504 Location: Chr11:112108104-112108661 bp Genetic Position: Chr11, Syntenic
• Alliance: Rr504^em5Takas page

Mutation origin

• Strain of Origin: (C57BL/6 x DBA/2)F1

Mutation description

• Allele Type: Endonuclease-mediated (Modified regulatory region)
• Mutations: Insertion, Intergenic deletion
• Mutation details: An evolutionary conserved sequence in the mouse equivalent of the XY sex reversal region (XYSR) found in human patients with disorders of sexual development (a 32.5 kb sequence located far upstream of SOX9), containing an embryonic Sox9 testis enhancer, was targeted using sgRNAs (equivalent to AGACTTGAAATTATTAAGA and ATAACAAACATTTACTGAT) with CRISPR/Cas9 technology, resulting in a 783 bp deletion (GRCm39:chr11:112108011-112108793) and 8 bp insertion (TTGTTAAT). This allele leads to sex reversal (genetic males present as phenotypic females). (J:268099)

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 Rr504 Mutation: 0 strains or lines available

References

• Original: J:268099 Ogawa Y, et al., Mapping of a responsible region for sex reversal upstream of Sox9 by production of mice with serial deletion in a genomic locus. Sci Rep. 2018 Nov 30;8(1):17514
• All: 1 reference(s)