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HPMR

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Bone morphogenetic protein 8b OKDB#: 1188
 Symbols: BMP8b Species: human
 Synonyms:  Locus:


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General Comment The bone morphogenetic proteins (BMPs) are a family of secreted signaling molecules that can induce ectopic bone growth. Many BMPs are part of the transforming growth factor-beta (TGFB) superfamily. These hormones binds to type I and type II receptors to activate SMAD genes.

General function Ligand, Hormone
Comment
Cellular localization Secreted
Comment
Ovarian function Germ cell development, Germ cell migration
Comment
Expression regulated by
Comment
Ovarian localization Primordial germ cell
Comment
Follicle stages
Comment
Phenotypes
Mutations 1 mutations

Species: mouse
Mutation name: None
type: null mutation
fertility: infertile - ovarian defect
Comment: Ying Y, et al reported the requirement of Bmp8b for the generation of primordial germ cells in the mouse. In the mouse embryo, the generation of primordial germ cells (PGCs) from the epiblast requires a bone morphogenetic protein-4 (BMP4) signal from the adjacent extraembryonic ectoderm. The authors reported that Bmp8b, a member of the Gbb-60A class of the BMP superfamily, is expressed in the extraembryonic ectoderm in pregastrula and gastrula stage mouse embryos and is required for PGC generation. A mutation in Bmp8b on a mixed genetic background results in the absence of PGCs in 43% null mutant embryos and severe reduction in PGC number in the remainder. The heterozygotes are unaffected. On a largely C57BL/6 background, Bmp8b null mutants completely lack PGCs, and Bmp8b heterozygotes have a reduced number of PGCs. In addition, Bmp8b homozygous null embryos on both genetic backgrounds have a short allantois, and this organ is missing in some more severe mutants. Since Bmp4 heterozygote embryos have reduced numbers of PGCs, the authors used a genetic approach to generate double-mutant embryos to study interactions of Bmp8b and Bmp4. Embryos that are double heterozygotes for the Bmp8b and Bmp4 mutations have similar defects in PGC number as Bmp4 heterozygotes, indicating that the effects of the two BMPs are not additive.

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Phenotypes and GWAS show phenotypes and GWAS
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created: June 16, 2001, 8:46 a.m. by: hsueh   email:
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last update: March 13, 2020, 11:52 a.m. by: hsueh    email:



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