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Atm
Gene Detail
 Symbol
Name
ID
Atm
ataxia telangiectasia mutated
MGI:107202
Synonyms C030026E19Rik
Feature Type protein coding gene
Genetic Map
Chromosome 9
29.12 cM, cytoband C-D
Detailed Genetic Map ± 1 cM


Mapping data(11)
Sequence Map
Chr9:53439149-53536740 bp, - strand
From VEGA annotation of GRCm38

  97592 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:30952  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Atm

Human
homologs
Human Homolog ATM, ATM serine/threonine kinase
NCBI Gene ID 472
neXtProt AC  NX_Q13315
Human Synonyms  AT1, ATA, ATC, ATD, ATDC, ATE, TEL1, TELO1
Human Chr (Location)  11q22-q23; chr11:108222832-108369102 (+)  GRCh38
Disease Associations  (2) Diseases Associated with Human ATM
Mutations,
alleles, and
phenotypes
All mutations/alleles(34) : Gene trapped(19) Targeted(15)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Human Diseases Modeled Using Mouse Atm (1)    Alleles Annotated to Human Diseases(6)    Phenotype Images(8)
Interactions
Atm interacts with 228 markers (Mir1a-1, Mir1a-2, Mir7-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (71 annotations)
Process brain development, cell cycle, ...
Component chromosome, telomeric region, cytoplasm, ...
Function 1-phosphatidylinositol-3-kinase activity, ATP binding, ...
External Resources: FuncBase
Expression
Literature Summary: (24 records)
Data Summary: Results (175)    Tissues (163)    Images (27)
Theiler Stages: 2, 3, 4, 11, 13, 17, 19, 21, 22, 23, 24, 26, 27, 28
Assay TypeResults
Immunohistochemistry 3
RNA in situ 164
Western blot 8
cDNA source data(84)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(91) Genomic(4) cDNA(85) Primer pair(2)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000031707 (Evidence)
Ensembl Gene ModelENSMUSG00000034218 (Evidence)
Entrez Gene11920 (Evidence)
UniGene5088
DFCITC1583806, TC1617112, TC1633837, TC1673775, TC1717969
DoTSDT.101722243, DT.110601795, DT.87068578, DT.87072152
NIA Mouse Gene IndexU030870
EC2.7.11.1
Consensus CDS ProjectCCDS40636.1
International Mouse Knockout Project StatusAtm
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000031707 VEGA Gene Model | MGI Sequence Detail 97592 C57BL/6J ±  kb
transcript OTTMUST00000078538 VEGA | MGI Sequence Detail 10006 Not Applicable 
polypeptide OTTMUSP00000041767 VEGA | MGI Sequence Detail 3066 Not Applicable 

For the selected sequences
All sequences(54) RefSeq(6) UniProt(6)
Polymorphisms RFLP(3) : SNPs within 2kb(318 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR016024 Armadillo-type fold
InterPro IPR015519 ATM/Tel1
InterPro IPR000403 Phosphatidylinositol 3-/4-kinase, catalytic domain
InterPro IPR018936 Phosphatidylinositol 3/4-kinase, conserved site
InterPro IPR014009 PIK-related kinase
InterPro IPR003151 PIK-related kinase, FAT
InterPro IPR003152 PIK-related kinase, FATC
InterPro IPR011009 Protein kinase-like domain
InterPro IPR021668 Telomere-length maintenance and DNA damage repair
Protein Ontology PR:000004427 serine-protein kinase ATM
References (Earliest) J:24773 Lane PW, New mutants: Dancer, Athetoid, and mahogany. Mouse News Lett. 1958;19:25
(Latest) J:212379 Santini S, et al., ATM kinase activity modulates ITCH E3-ubiquitin ligase activity. Oncogene. 2014 Feb 27;33(9):1113-23
All references(366)
Disease annotation references (8)
Other
accession IDs
MGD-MRK-35663, MGI:1924666, MGI:2143000

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
09/23/2014
MGI 5.19
The Jackson Laboratory