Rr504^em1Takas
Endonuclease-mediated Allele Detail

Summary

• Symbol: Rr504^em1Takas
• Name: regulatory region 504; endonuclease-mediated mutation 1, Shuji Takada
• MGI ID: MGI:7707802
• Synonyms: Enh13^del, mXYSR^del, mXYSR^del delta7-6
• Gene: Rr504 Location: Chr11:112108104-112108661 bp Genetic Position: Chr11, Syntenic
• Alliance: Rr504^em1Takas page

Mutation origin

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

Mutation description

• Allele Type: Endonuclease-mediated (Modified regulatory region)
• Mutation: Intragenic deletion
• Mutation details: The mouse equivalent of 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 GAAGCTGCCTCGGGGAATA and ATGGACAAATGGCGTTTAT) with CRISPR/Cas9 technology, resulting in a 26,850 bp deletion (GRCm39:chr11:112105956-112132805) encompassing the entire sequence. This allele leads to sex reversal (genetic males present as phenotypic females). (J:268099)

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 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: 2 reference(s)