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Blm Gene Detail
Summary
  • Symbol
    Blm
  • Name
    Bloom syndrome, RecQ helicase-like
  • Feature Type
    protein coding gene
  • IDs
    MGI:1328362
    NCBI Gene: 12144
Location & Maps
more
  • Sequence Map
    Chr7:80454993-80535119 bp, - strand
  • From NCBI annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      80127 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    BLM, Bloom syndrome, RecQ helicase-like
  • Vertebrate Orthologs
    10
  • Human Ortholog
    BLM, Bloom syndrome, RecQ helicase-like
    Orthology source: HomoloGene
  • Synonyms
    BS, RECQ2, RECQL2, RECQL3
  • Links
    NCBI Gene ID: 641
    neXtProt AC: NX_P54132

  • Chr Location
    15q26.1; chr15:90717327-90815462 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 47902
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: BLM
  • Gene Tree
    Blm
Human Diseases
more
  • Diseases
    1 with Blm mouse models; 1 with human BLM associations

Human Disease Mouse Models
       Bloom Syndrome; BLM   OMIM: 210900 View 7 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    25 phenotypes from 6 alleles in 7 genetic backgrounds
    5 phenotypes from multigenic genotypes
    45 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    66
  • Chemically induced (other)
    1
  • Gene trapped
    55
  • Radiation induced
    2
  • Targeted
    8
  • Genomic Mutations
    3 involving Blm
  • Incidental Mutations
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.
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
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
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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
Interactions
less
Sequences &
Gene Models
less
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 sequence
Polymorphisms
less
  • SNPs within 2kb
    611 from dbSNP Build 137
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 106
    Genomic 1
    cDNA 103
    Primer pair 2

    Microarray probesets 3
References
more
  • Summaries
    All 64
    Developmental Gene Expression 3
    Diseases 5
    Gene Ontology 14
    Phenotypes 45
  • 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:223244 Kim TM, et al., RECQL5 and BLM exhibit divergent functions in cells defective for the Fanconi anemia pathway. Nucleic Acids Res. 2015 Jan;43(2):893-903

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
02/02/2016
MGI 6.02
The Jackson Laboratory