Bmp15^em1Ksjq
Endonuclease-mediated Allele Detail

Summary

• Symbol: Bmp15^em1Ksjq
• Name: bone morphogenetic protein 15; endonuclease-mediated mutation 1, Shan Kang
• MGI ID: MGI:7658873
• Synonyms: BMP15 R86C
• Gene: Bmp15 Location: ChrX:6226161-6232775 bp, - strand Genetic Position: ChrX, 2.81 cM
• Alliance: Bmp15^em1Ksjq page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Hypomorph)
• Mutation: Single point mutation
• Mutation details: CRISPR-targeting introduced a point mutation (c.C262T) that results in the amino acid substitution of arginine with cysteine at position 86 (R86C). This mutation results in severely reduced protein expression and corresponds to the R88C mutation observed in human patients that develop hereditary ovarian immature teratoma. (J:346097)

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 Bmp15 Mutation: 1 strain or line available

References

• Original: J:346097 Liu Y, et al., A rare germline BMP15 missense mutation causes hereditary ovarian immature teratoma in human. Proc Natl Acad Sci U S A. 2024 Mar 5;121(10):e2310409121
• All: 1 reference(s)