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Atm Gene Detail
Summary
  • Symbol
    Atm
  • Name
    ataxia telangiectasia mutated
  • Synonyms
    C030026E19Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:107202
    NCBI Gene: 11920
  • Gene Overview
    MyGene.info: ATM
  • Alliance
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:53439149-53536740 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 9, 29.12 cM, cytoband C-D
  • Mapping Data
    11 experiments
Strain
Comparison
more
  • SNPs within 2kb
    315 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_107202
protein coding gene Chr9:53437122-53536816 (-)
129S1/SvImJ MGP_129S1SvImJ_G0034811
protein coding gene Chr9:52459774-52561164 (-)
A/J MGP_AJ_G0034792
protein coding gene Chr9:50809790-50909382 (-)
AKR/J MGP_AKRJ_G0034720
protein coding gene Chr9:51907915-52007612 (-)
BALB/cJ MGP_BALBcJ_G0034784
protein coding gene Chr9:50557306-50658306 (-)
C3H/HeJ MGP_C3HHeJ_G0034494
protein coding gene Chr9:52391690-52493309 (-)
C57BL/6NJ MGP_C57BL6NJ_G0035303
protein coding gene Chr9:53943303-54043764 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0032216
protein coding gene Chr9:50206132-50320300 (-)
CAST/EiJ MGP_CASTEiJ_G0033816
protein coding gene Chr9:52389141-52489098 (-)
CBA/J MGP_CBAJ_G0034465
protein coding gene Chr9:55769084-55873985 (-)
DBA/2J MGP_DBA2J_G0034624
protein coding gene Chr9:50689543-50788923 (-)
FVB/NJ MGP_FVBNJ_G0034566
protein coding gene Chr9:49871051-49969075 (-)
LP/J MGP_LPJ_G0034706
protein coding gene Chr9:52766649-52866795 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0034609
protein coding gene Chr9:57350191-57460357 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0035325
protein coding gene Chr9:51916671-52016597 (-)
PWK/PhJ MGP_PWKPhJ_G0033520
protein coding gene Chr9:50665890-50765497 (-)
SPRET/EiJ MGP_SPRETEiJ_G0033356
protein coding gene Chr9:52202746-52308649 (-)
WSB/EiJ MGP_WSBEiJ_G0033928
protein coding gene Chr9:51908550-52013004 (-)



Homology
more
  • Human Ortholog
    ATM, ATM serine/threonine kinase
  • Vertebrate Orthologs
    10
  • Human Ortholog
    ATM, ATM serine/threonine kinase
    Orthology source: HomoloGene, HGNC
  • Synonyms
    AT1, ATA, ATC, ATD, ATDC, ATE, TEL1, TELO1
  • Links
    NCBI Gene ID: 472
    neXtProt AC: NX_Q13315
    UniProt: Q13315

  • Chr Location
    11q22.3; chr11:108222484-108369102 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 30952
    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: ATM
  • Gene Tree
    Atm
Human Diseases
more
  • Diseases
    1 with Atm mouse models; 2 with human ATM associations

Human Disease Mouse Models
      
IDs
View 8 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    7 with disease annotations
  • References
    10 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    124 phenotypes from 13 alleles in 25 genetic backgrounds
    47 phenotypes from multigenic genotypes
    8 images
    335 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Homozygotes for null mutations may exhibit locomotor abnormalities, motor learning deficits, growth retardation, sterility due to meiotic arrest, and susceptibility to thymic lymphomas. Mice homozygous for a kinase dead allele exhibit early embryonic lethality associated with genetic instability.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000034218 Ensembl Gene Model | MGI Sequence Detail 97592 C57BL/6J ±  kb
    transcript ENSMUST00000232179 Ensembl | MGI Sequence Detail 9787 Not Applicable  
    polypeptide ENSMUSP00000156344 Ensembl | MGI Sequence Detail 3066 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 92
      Genomic 4
      cDNA 85
      Primer pair 2
      Other 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-35663, MGI:1924666, MGI:2143000
    References
    more
    • Summaries
      All 491
      Developmental Gene Expression 32
      Diseases 10
      Gene Ontology 33
      Phenotypes 335
    • Earliest
      J:42531 Savitsky K, et al., A single ataxia telangiectasia gene with a product similar to PI-3 kinase [see comments]. Science. 1995 Jun 23;268(5218):1749-53
    • Latest
      J:266082 Horwitz E, et al., beta-Cell DNA Damage Response Promotes Islet Inflammation in Type 1 Diabetes. Diabetes. 2018 Nov;67(11):2305-2318

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
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    last database update
    11/13/2018
    MGI 6.13
    The Jackson Laboratory