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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
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:139382510-139421829 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 1, 61.45 cM, cytoband F
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1324 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1334448
 protein coding gene Chr1:139381450-139421829 (+)
129S1/SvImJ MGP_129S1SvImJ_G0016553
 protein coding gene Chr1:143519730-143561391 (+)
A/J MGP_AJ_G0016536
 protein coding gene Chr1:137940545-137980831 (+)
AKR/J MGP_AKRJ_G0016501
 protein coding gene Chr1:142107835-142148376 (+)
BALB/cJ MGP_BALBcJ_G0016496
 protein coding gene Chr1:138302172-138341541 (+)
C3H/HeJ MGP_C3HHeJ_G0016322
 protein coding gene Chr1:142194293-142234914 (+)
C57BL/6NJ MGP_C57BL6NJ_G0016957
 protein coding gene Chr1:148551160-148591495 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0014668
 protein coding gene Chr1:131006144-131050634 (+)
CAST/EiJ MGP_CASTEiJ_G0015902
 protein coding gene Chr1:141375008-141415589 (+)
CBA/J MGP_CBAJ_G0016295
 protein coding gene Chr1:153681105-153720971 (+)
DBA/2J MGP_DBA2J_G0016401
 protein coding gene Chr1:136948376-136988319 (+)
FVB/NJ MGP_FVBNJ_G0016400
 protein coding gene Chr1:135583976-135623281 (+)
LP/J MGP_LPJ_G0016472
 protein coding gene Chr1:144622333-144661596 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0016425
 protein coding gene Chr1:159324816-159370183 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0016993
 protein coding gene Chr1:141908439-141948115 (+)
PWK/PhJ MGP_PWKPhJ_G0015688
 protein coding gene Chr1:136031077-136070763 (+)
SPRET/EiJ MGP_SPRETEiJ_G0015475
 protein coding gene Chr1:140853516-140893724 (+)
WSB/EiJ MGP_WSBEiJ_G0015965
 protein coding gene Chr1:141912327-141952174 (+)



Homology
more
  • Human Ortholog
    ASPM, assembly factor for spindle microtubules
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ASPM, assembly factor for spindle microtubules
  • Synonyms
    ASP, Calmbp1, MCPH5
  • Links
    NCBI Gene ID: 259266
    neXtProt AC: NX_Q8IZT6
    UniProt: Q8IZT6

  • Chr Location
    1q31.3; chr1:197084121-197146694 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Aspm mouse models; 4 with human ASPM associations

Human Disease Mouse Models
      
IDs
 View 3 models
      
IDs
IDs
IDs
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
less
  • Phenotype Summary
    32 phenotypes from 6 alleles in 5 genetic backgrounds
    23 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
less
  • All GO Annotations
    40
  • GO References
    11
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
    885
  • Tissues
    127
  • cDNA Data
    19
  • Literature Summary
    22
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000033952 Ensembl Gene Model | MGI Sequence Detail 39320 C57BL/6J ±  kb
    transcript ENSMUST00000053364 Ensembl | MGI Sequence Detail 9867 Not Applicable  
    polypeptide ENSMUSP00000059159 Ensembl | MGI Sequence Detail 3122 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 24
      cDNA 20
      Primer pair 3
      Other 1

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGI:2444618
    References
    more
    • Summaries
      All 71
      Developmental Gene Expression 22
      Diseases 2
      Gene Ontology 11
      Phenotypes 23
    • 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:354227 Barao S, et al., Conserved transcriptional regulation by BRN1 and BRN2 in neocortical progenitors drives mammalian neural specification and neocortical expansion. Nat Commun. 2024 Sep 14;15(1):8043
    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)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory