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; 1 zebrafish

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; chr8:6264113-6501140 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human MCPH1

Alleles and phenotypes

All alleles(16) : Targeted(4) Gene trapped(12)
 

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)

Gene Ontology (GO) classifications

All GO classifications: (12 annotations)

Process	cerebral cortex development, establishment of mitotic spindle orientation, ...
Component	cytoplasm, cytoskeleton
Function	molecular_function

External Resources: FuncBase

Expression

Literature Summary: (2 records)
Data Summary: Results (19)    Tissues (13)   
Theiler Stages: 21, 22, 23, 28

Assay Type	Results
RNA in situ	9
Western blot	4
RT-PCR	6

cDNA source data(26)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(28) cDNA(26) Primer pair(2)
Microarray probesets(3)

Other database links

VEGA Gene Model	OTTMUSG00000020492 (Evidence)
Ensembl Gene Model	ENSMUSG00000039842 (Evidence)
Entrez Gene	244329 (Evidence)
UniGene	235296
DFCI	TC1581295, TC1596174
DoTS	DT.101362922, DT.111194392, DT.91348414, DT.94167305, DT.94202303, DT.94277400
NIA Mouse Gene Index	U009134
Consensus CDS Project	CCDS22124.1
International Mouse Knockout Project Status	Mcph1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000020492	VEGA Gene Model | MGI Sequence Detail	208059	C57BL/6J
transcript	OTTMUST00000048602	VEGA | MGI Sequence Detail	4662	Not Applicable
polypeptide	OTTMUSP00000022321	VEGA | MGI Sequence Detail	822	Not Applicable

All sequences(53) RefSeq(2) UniProt(7)

Polymorphisms

SNPs(219 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:180706 Gruber R, et al., MCPH1 regulates the neuroprogenitor division mode by coupling the centrosomal cycle with mitotic entry through the Chk1-Cdc25 pathway. Nat Cell Biol. 2011 Nov;13(11):1325-34
All references(37)

Other accession IDs

MGI:1918596