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Blm
Gene Detail
 Symbol
Name
ID
Blm
Bloom syndrome, RecQ helicase-like
MGI:1328362
Feature Type protein coding gene
Genetic Map
Chromosome 7
45.65 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr7:80454993-80535119 bp, - strand
From NCBI annotation of GRCm38

  80127 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:47902  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Blm

Human
homologs
Human Homolog BLM, Bloom syndrome, RecQ helicase-like
NCBI Gene ID 641
neXtProt AC  NX_P54132
Human Synonyms  BS, RECQ2, RECQL2, RECQL3
Human Chr (Location)  15q26.1; chr15:90717327-90815462 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human BLM
Mutations,
alleles, and
phenotypes
All mutations/alleles(63) : Gene trapped(55) Targeted(8)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygous null mutants are developmentally delayed, with increased apopotosis in the epiblast and severe anemia, dying at embyronic day 13.5; but homozygotes for a cre mediated recombinant allele are viable Bloom syndrome-like mice prone to a wide variety of cancers and showing increased rates of LOH.
 
Human Diseases Modeled Using Mouse Blm (1)    Alleles Annotated to Human Diseases(4)   
Interactions
Blm interacts with 99 markers (Mir9-1, Mir9-2, Mir9-3, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (67 annotations)
Process alpha-beta T cell differentiation, ATP catabolic process, ...
Component chromosome, telomeric region, cytoplasm, ...
Function annealing helicase activity, ATPase activity, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (3 records)
Data Summary: Results (51)    Tissues (22)   
Theiler Stages: 15, 17, 19, 20, 21, 24, 28
Assay TypeResults
Northern blot 20
Western blot 23
RT-PCR 8
cDNA source data(103)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(106) Genomic(1) cDNA(103) Primer pair(2)
Microarray probesets(3)
Other database
links
Ensembl Gene ModelENSMUSG00000030528 (Evidence)
Entrez Gene12144 (Evidence)
UniGene12932
DFCITC1577362
DoTSDT.101186485, DT.101380515, DT.111012776, DT.40183800, DT.94257097
NIA Mouse Gene IndexU028766
EC3.6.4.12
Consensus CDS ProjectCCDS40000.1, CCDS52281.1
International Mouse Knockout Project StatusBlm
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 12144 NCBI Gene Model | MGI Sequence Detail 80127 C57BL/6J ±  kb
transcript NM_007550 RefSeq | MGI Sequence Detail 4869 C57BL/6 
polypeptide O88700 UniProt | EBI | MGI Sequence Detail 1416 Not Applicable 

For the selected sequences
All sequences(30) RefSeq(5) UniProt(2)
Polymorphisms RFLP(2) : SNPs within 2kb(611 from dbSNP Build 137)    SNPs within 2kb including multiple locations(619)
Protein-related
information
ResourceIDDescription
InterPro IPR012532 BDHCT
InterPro IPR004589 DNA helicase, ATP-dependent, RecQ type
InterPro IPR002464 DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site
InterPro IPR011545 DNA/RNA helicase, DEAD/DEAH box type, N-terminal
InterPro IPR001650 Helicase, C-terminal
InterPro IPR014001 Helicase, superfamily 1/2, ATP-binding domain
InterPro IPR002121 HRDC domain
InterPro IPR010997 HRDC-like
InterPro IPR027417 P-loop containing nucleoside triphosphate hydrolase
InterPro IPR018982 RQC domain
InterPro IPR011991 Winged helix-turn-helix DNA-binding domain
Protein Ontology PR:000004759 bloom syndrome protein
Graphical View of Protein Domain Structure
References (Earliest) J:48817 Seki T, et al., cDNA cloning of mouse BLM gene, the homologue to human Bloom's syndrome gene, which is highly expressed in the testis at the mRNA level. Biochim Biophys Acta. 1998 Jul 9;1398(3):377-81
(Latest) J:194603 Bothmer A, et al., Mechanism of DNA resection during intrachromosomal recombination and immunoglobulin class switching. J Exp Med. 2013 Jan 14;210(1):115-23
All references(64)
Disease annotation references (5)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/12/2014
MGI 5.19
The Jackson Laboratory