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Mcph1
Gene Detail
 Symbol
Name
ID
Mcph1
microcephaly, primary autosomal recessive 1
MGI:2443308
Synonyms 5430437K10Rik, BRIT1, D030046N04Rik
Feature Type protein coding gene
Genetic Map
Chromosome 8
10.24 cM, cytoband A3
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr8:18595131-18803189 bp, + strand
From VEGA annotation of GRCm38

  208059 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:32586  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog; 1 chicken

Gene Tree: Mcph1

Human
homologs
Human Homolog MCPH1, microcephalin 1
NCBI Gene ID 79648
neXtProt AC  NX_Q8NEM0
Human Synonyms  BRIT1, MCT
Human Chr (Location)  8p23.1; chr8:6406592-6643619 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human MCPH1
Mutations,
alleles, and
phenotypes
All mutations/alleles(16) : Gene trapped(12) Targeted(4)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Human Diseases Modeled Using Mouse Mcph1 (1)    Alleles Annotated to Human Diseases(1)    Phenotype Images(1)
Interactions
Mcph1 interacts with 294 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (15 annotations)
Process bone development, cerebral cortex development, ...
Component cell, cytoplasm, ...
Function identical protein binding
External Resources: FuncBase
Expression
Literature Summary: (2 records)
Data Summary: Results (19)    Tissues (13)    Images (9)
Theiler Stages: 21, 22, 23, 28
Assay TypeResults
RNA in situ 9
Western blot 4
RT-PCR 6
cDNA source data(26)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(28) cDNA(26) Primer pair(2)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000020492 (Evidence)
Ensembl Gene ModelENSMUSG00000039842 (Evidence)
Entrez Gene244329 (Evidence)
UniGene235296
DFCITC1581295, TC1596174
DoTSDT.101362922, DT.111194392, DT.91348414, DT.94167305, DT.94202303, DT.94277400
NIA Mouse Gene IndexU009134
Consensus CDS ProjectCCDS22124.1
International Mouse Knockout Project StatusMcph1
Sequences
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 sequences
All sequences(69) RefSeq(18) UniProt(7)
Polymorphisms SNPs within 2kb(522 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR001357 BRCT domain
InterPro IPR022047 Microcephalin
Protein Ontology PR:000010255 microcephalin
References (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:199385 Chen J, et al., Mcph1-deficient mice reveal a role for MCPH1 in otitis media. PLoS One. 2013;8(3):e58156
All references(38)
Disease annotation references (1)
Other
accession IDs
MGI:1918596

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
07/23/2014
MGI 5.19
The Jackson Laboratory