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Mcph1 Gene Detail
Summary
  • Symbol
    Mcph1
  • Name
    microcephaly, primary autosomal recessive 1
  • Synonyms
    5430437K10Rik, BRIT1, D030046N04Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:2443308
    NCBI Gene: 244329
Location & Maps
more
  • Sequence Map
    Chr8:18595131-18803189 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      208059 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 8, 10.24 cM, cytoband A3
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    MCPH1, microcephalin 1
  • Vertebrate Orthologs
    7
  • Human Ortholog
    MCPH1, microcephalin 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    BRIT1, MCT
  • Links
    NCBI Gene ID: 79648
    neXtProt AC: NX_Q8NEM0

  • Chr Location
    8p23.1; chr8:6406592-6643619 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Mcph1 mouse models; 1 with human MCPH1 associations

Human Disease Mouse Models
       Microcephaly 1, Primary, Autosomal Recessive; MCPH1   OMIM: 251200 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    63 phenotypes from 4 alleles in 5 genetic backgrounds
    1 images
    13 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    16
  • Gene trapped
    12
  • Targeted
    4
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000020492 VEGA Gene Model | MGI Sequence Detail 208059 C57BL/6J ±  kb
transcript OTTMUST00000048602 VEGA | MGI Sequence Detail 4662 Not Applicable  
polypeptide OTTMUSP00000022321 VEGA | MGI Sequence Detail 822 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    514 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 28
    cDNA 26
    Primer pair 2

    Microarray probesets 3
Other
Accession IDs
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MGI:1918596
References
more
  • Summaries
    All 37
    Developmental Gene Expression 2
    Diseases 1
    Gene Ontology 6
    Phenotypes 13
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:224255 Liang Y, et al., Mcph1/Brit1 deficiency promotes genomic instability and tumor formation in a mouse model. Oncogene. 2015 Aug 13;34(33):4368-78

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/13/2016
MGI 6.05
The Jackson Laboratory