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HPMR

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Cysteine-rich Motor Neuron Protein 1 OKDB#: 3659
 Symbols: CRIM1 Species: human
 Synonyms: S52, MGC138194,  Locus: 2p21 in Homo sapiens
HPMR


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General Comment

NCBI Summary: Motor neurons are among the earliest neurons to appear after the commencement of cell patterning and the beginning of cell differentiation. Differentiation occurs in a ventral-to-dorsal gradient and is mediated, at least in part, by the concentration of ventrally expressed sonic hedgehog protein (SHH; MIM 600725). Dorsally expressed factors, such as members of the bone morphogenic protein (e.g., BMP4; MIM 112262) and transforming growth factor-beta (e.g., TGFB1; MIM 190180) families, can repress the induction of these neurons. CRIM1 may interact with growth factors implicated in motor neuron differentiation and survival (Kolle et al., 2000).[supplied by OMIM]
General function Receptor
Comment
Cellular localization Plasma membrane
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Ovarian function
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Expression regulated by
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Ovarian localization
Comment Crim1(KST264/KST264) mice display a disruption of the Crim1 gene resulting in perinatal lethality with defects in multiple organ systems. Pennisi DJ et al. Crim1 is a transmembrane protein, containing six vWF-C type cysteine-rich repeats, that tethers growth factors to the cell surface. A mouse line, KST264, generated in a LacZ insertion mutagenesis gene-trap screen, was examined to elucidate Crim1 function in development. We showed that Crim1(KST264/KST264) mice were not null for Crim1 due to the production of a shortened protein isoform. These mice are likely to represent an effective hypomorph or a dominant-negative for Crim1. Transgene expression recapitulated known Crim1 expression in lens, brain, and limb, but also revealed expression in the smooth muscle cells of the developing heart and renal vasculature, developing cartilage, mature ovary and detrusor of the bladder. Transgene expression was also observed in glomerular epithelial cells, podocytes, mesangial cells, and urothelium in the kidney. Crim1(KST264/KST264) mice displayed perinatal lethality, syndactyly, eye, and kidney abnormalities. The severe and complex phenotype observed in Crim1(KST264/KST264) mice highlights the importance of Crim1 in numerous aspects of organogenesis. Developmental Dynamics, 2007. (c) 2006 Wiley-Liss, Inc.
Follicle stages
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Phenotypes
Mutations 0 mutations
SNPs
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created: Nov. 22, 2006, 11:36 a.m. by: hsueh   email:
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last update: Nov. 22, 2006, 11:37 a.m. by: hsueh    email:



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