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Aspm Gene Detail
Summary
  • Symbol
    Aspm
  • Name
    abnormal spindle microtubule assembly
  • Synonyms
    Aspm, Calmbp1, D330028K02Rik, MCPH5, Sha1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1334448
    NCBI Gene: 12316
  • Gene Overview
    MyGene.info: ASPM
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr1:139454772-139494091 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      39320 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 61.45 cM, cytoband F
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    ASPM, abnormal spindle microtubule assembly
  • Vertebrate Orthologs
    10
  • Human Ortholog
    ASPM, abnormal spindle microtubule assembly
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ASP, Calmbp1, MCPH5
  • Links
    NCBI Gene ID: 259266
    neXtProt AC: NX_Q8IZT6
    UniProt: Q8IZT6

  • Chr Location
    1q31.3; chr1:197084127-197146694 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 7650
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: ASPM
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Aspm mouse models; 1 with human ASPM associations

Human Disease Mouse Models
      
IDs
View 3 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    28 phenotypes from 5 alleles in 4 genetic backgrounds
    16 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.
Mice homozygous for protein-truncating gene trap mutations of this gene exhibit decreased body weight, microcephaly, a severe reduction in brain, testis and ovary weight, oligozoospermia and asthenospermia, and reduced fertility in both sexes.
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 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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000019630 VEGA Gene Model | MGI Sequence Detail 39320 C57BL/6J ±  kb
    transcript OTTMUST00000046913 VEGA | MGI Sequence Detail 9867 Not Applicable  
    polypeptide OTTMUSP00000021198 VEGA | MGI Sequence Detail 3122 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      450 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 19
      cDNA 17
      Primer pair 1
      Other 1

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGI:2444618
    References
    more
    • Summaries
      All 57
      Developmental Gene Expression 16
      Diseases 2
      Gene Ontology 10
      Phenotypes 16
    • Earliest
      J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
    • Latest
      J:255065 Sgourdou P, et al., Disruptions in asymmetric centrosome inheritance and WDR62-Aurora kinase B interactions in primary microcephaly. Sci Rep. 2017 Mar 8;7(None):43708

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    05/15/2018
    MGI 6.12
    The Jackson Laboratory