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Protein Coding Gene : Mcph1 microcephaly, primary autosomal recessive 1

Primary Identifier  MGI:2443308 Organism  mouse, laboratory
Chromosome  8 NCBI Gene Number  244329
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0)

Predicted to enable identical protein binding activity. Acts upstream of or within several processes, including establishment of mitotic spindle orientation; neuronal stem cell population maintenance; and protein localization to centrosome. Predicted to be located in cytoplasm and cytoskeleton. Is expressed in brain. Used to study microcephaly. Human ortholog(s) of this gene implicated in breast cancer; endometrial cancer; microcephaly; primary autosomal recessive microcephaly; and primary autosomal recessive microcephaly 1. Orthologous to human MCPH1 (microcephalin 1).
PHENOTYPE: Homozygous null mice are born at a reduced rate and display male and female infertility and arrest of male meiosis. Mice homozygous for another knock-out allele exhibit microcephaly, infertility, decreased brain size, impaired neuroprogenitor proliferation and apoptosis, and mitosis. [provided by MGI curators]
  • synonyms:
  • MGI:1918596,
  • microcephaly, primary autosomal recessive 1,
  • BRIT1,
  • 5430437K10Rik,
  • D030046N04Rik,
  • RIKEN cDNA D030046N04 gene,
  • Mcph1,
  • MGI:3056376,
  • RIKEN cDNA 5430437K10 gene

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Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

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Proteins

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Mouse features --> Functions (GO terms)

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