Atm
Gene Detail

Symbol Name ID

Atm ataxia telangiectasia mutated homolog (human) 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 zebrafish

Gene Tree: Atm

Human homologs

Human Homolog		ATM, ataxia telangiectasia mutated
NCBI Gene ID		472
neXtProt AC		NX_Q13315
Human Synonyms		AT1, ATA, ATC, ATD, ATDC, ATE, TEL1, TELO1
Human Chr (Location)		11q22-q23; chr11:108093559-108239826 (+)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human ATM

Alleles and phenotypes

All alleles(32) : Targeted(13) Gene trapped(19)
 

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)

Gene Ontology (GO) classifications

All GO classifications: (68 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: (23 records)
Data Summary: Results (175)    Tissues (160)    Images (27)
Theiler Stages: 2, 3, 4, 11, 13, 17, 19, 21, 22, 23, 24, 26, 28

Assay Type	Results
Immunohistochemistry	3
RNA in situ	164
Western blot	8

cDNA source data(84)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(91) Genomic(4) cDNA(85) Primer pair(2)
Microarray probesets(4)

Other database links

VEGA Gene Model	OTTMUSG00000031707 (Evidence)
Ensembl Gene Model	ENSMUSG00000034218 (Evidence)
Entrez Gene	11920 (Evidence)
UniGene	5088
DFCI	TC1583806, TC1617112, TC1633837, TC1673775, TC1717969
DoTS	DT.101722243, DT.110601795, DT.87068578, DT.87072152
NIA Mouse Gene Index	U030870
EC	2.7.11.1
Consensus CDS Project	CCDS40636.1
International Mouse Knockout Project Status	Atm

Sequences

Length	Strain/Species
genomic	OTTMUSG00000031707	VEGA Gene Model | MGI Sequence Detail	97592	C57BL/6J
transcript	OTTMUST00000078538	VEGA | MGI Sequence Detail	10006	Not Applicable
polypeptide	OTTMUSP00000041767	VEGA | MGI Sequence Detail	3066	Not Applicable

All sequences(50) RefSeq(2) UniProt(6)

Polymorphisms

RFLP(3) : SNPs(244 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:194229 Kass EM, et al., Double-strand break repair by homologous recombination in primary mouse somatic cells requires BRCA1 but not the ATM kinase. Proc Natl Acad Sci U S A. 2013 Apr 2;110(14):5564-9
All references(340)

Other accession IDs

MGD-MRK-35663, MGI:1924666, MGI:2143000