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Allele : Bmp15<em1Ksjq> bone morphogenetic protein 15; endonuclease-mediated mutation 1, Shan Kang

Primary Identifier  MGI:7658873 Allele Type  Endonuclease-mediated
Attribute String  Hypomorph Gene  Bmp15
Strain of Origin  C57BL/6 Is Recombinase  false
Is Wild Type  false
molecularNote  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.
  • mutations:
  • Single point mutation
  • synonyms:
  • BMP15 R86C,
  • BMP15 R86C
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

2 Publication categories