Nr5a1^em1Kemi
Endonuclease-mediated Allele Detail

Summary

• Symbol: Nr5a1^em1Kemi
• Name: nuclear receptor subfamily 5, group A, member 1; endonuclease-mediated mutation 1, Kenji Miyado
• MGI ID: MGI:6355954
• Synonyms: Nr5a1^p.R92W
• Gene: Nr5a1 Location: Chr2:38582668-38604554 bp, - strand Genetic Position: Chr2, 24.42 cM
• Alliance: Nr5a1^em1Kemi page

Mutation origin

• Strain of Origin: B6D2F1

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 mutagenesis was used with a gRNA and a donor oligonucleotide to create a C to T mutation (c.274C>T) that changes arginine codon 92 into an tryptophan codon (p.R92W). This mutation mimics a mutation found in patients with 46,XX testicular/ovotesticular disorders of sex development (DSD). (J:277036)

Expression

In Structures Affected by this Mutation:

3 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 Nr5a1 Mutation: 30 strains or lines available

References

• Original: J:277036 Miyado M, et al., The p.R92W variant of NR5A1/Nr5a1 induces testicular development of 46,XX gonads in humans, but not in mice: phenotypic comparison of human patients and mutation-induced mice. Biol Sex Differ. 2016;7:56
• All: 1 reference(s)