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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
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:18645147-18853205 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 8, 10.24 cM, cytoband A3
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    5531 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2443308
 protein coding gene Chr8:18645132-18858110 (+)
129S1/SvImJ MGP_129S1SvImJ_G0033403
 protein coding gene Chr8:16042577-16273257 (+)
A/J MGP_AJ_G0033384
 protein coding gene Chr8:15503738-15712521 (+)
AKR/J MGP_AKRJ_G0033314
 protein coding gene Chr8:15949795-16168171 (+)
BALB/cJ MGP_BALBcJ_G0033384
 protein coding gene Chr8:15611035-15825788 (+)
C3H/HeJ MGP_C3HHeJ_G0033097
 protein coding gene Chr8:16150694-16362752 (+)
C57BL/6NJ MGP_C57BL6NJ_G0033896
 protein coding gene Chr8:16570161-16807429 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0030862
 protein coding gene Chr8:14827361-15029611 (+)
CAST/EiJ MGP_CASTEiJ_G0032419
 protein coding gene Chr8:15998889-16218069 (+)
CBA/J MGP_CBAJ_G0033070
 protein coding gene Chr8:17300747-17531046 (+)
DBA/2J MGP_DBA2J_G0033224
 protein coding gene Chr8:15460749-15671328 (+)
FVB/NJ MGP_FVBNJ_G0033172
 protein coding gene Chr8:15466960-15679796 (+)
LP/J MGP_LPJ_G0033317
 protein coding gene Chr8:16078928-16296779 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0033209
 protein coding gene Chr8:17474313-17691671 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0033913
 protein coding gene Chr8:15977298-16192409 (+)
PWK/PhJ MGP_PWKPhJ_G0032132
 protein coding gene Chr8:15477916-15690441 (+)
SPRET/EiJ MGP_SPRETEiJ_G0031973
 protein coding gene Chr8:15894095-16112045 (+)
WSB/EiJ MGP_WSBEiJ_G0032535
 protein coding gene Chr8:16063393-16278656 (+)



Homology
more
  • Human Ortholog
    MCPH1, microcephalin 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MCPH1, microcephalin 1
  • Synonyms
    BRIT1, MCT
  • Links
    NCBI Gene ID: 79648
    neXtProt AC: NX_Q8NEM0
    UniProt: Q8NEM0

  • Chr Location
    8p23.1; chr8:6406592-6648508 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Mcph1 mouse models; 5 with human MCPH1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
IDs
IDs
IDs
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
less
  • Phenotype Summary
    63 phenotypes from 4 alleles in 5 genetic backgrounds
    7 phenotypes from multigenic genotypes
    4 images
    51 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.
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
less
  • All GO Annotations
    18
  • GO References
    9
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    727
  • Tissues
    15
  • cDNA Data
    27
  • Literature Summary
    11
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000039842 Ensembl Gene Model | MGI Sequence Detail 208059 C57BL/6J ±  kb
    transcript ENSMUST00000039412 Ensembl | MGI Sequence Detail 4662 Not Applicable  
    polypeptide ENSMUSP00000037000 Ensembl | MGI Sequence Detail 822 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 29
      cDNA 27
      Primer pair 2

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:1918596, MGI:3056376
    References
    more
    • Summaries
      All 84
      Developmental Gene Expression 11
      Diseases 1
      Gene Ontology 9
      Phenotypes 51
    • Earliest
      J:52612 Le AX, et al., Cytotoxic T cell responses in HLA-A2.1 transgenic mice. Recognition of HLA alloantigens and utilization of HLA-A2.1 as a restriction element. J Immunol. 1989 Feb 15;142(4):1366-71
    • Latest
      J:356743 Yang Q, et al., Epigenetic and transcriptional landscapes during cerebral cortex development in a microcephaly mouse model. J Genet Genomics. 2024 Apr;51(4):419-432
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    12/17/2024
    MGI 6.24     		The Jackson Laboratory