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Hbb-b1 Gene Detail
Summary
  • Symbol
    Hbb-b1
  • Name
    hemoglobin, beta adult major chain
  • Synonyms
    beta1, beta maj, beta major globin, MommeD7
Location & Maps
more
  • Sequence Map
    Genome coordinates not available
Homology
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Human Diseases
more
  • Diseases
    2 with Hbb-b1 mouse models

Human Disease Mouse Models
       Beta-Thalassemia   OMIM: 613985 View 11 models
Hemoglobin--Beta Locus; HBB   OMIM: 141900 View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    12 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    45 phenotypes from 4 alleles in 6 genetic backgrounds
    50 phenotypes from multigenic genotypes
    53 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
    8
  • Chemically induced (ENU)
    2
  • Targeted
    5
  • Transgenic
    1
  • Incidental Mutations
Homozygotes for a deletion of both adult hemoglobin-beta genes resemble human Cooley anemia and die perinatally. Heterozygotes are anemic with hematological abnormalities and iron accumulation. Homozygotes for a missense mutation have hemolytic anemia.
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
Sequences &
Gene Models
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  • All Sequences
  • RefSeq
Representative SequencesLengthStrain/SpeciesFlank
genomic J00413 GenBank | EMBL | DDBJ | MGI Sequence Detail 6532 BALB/c ±  kb
transcript NM_001278161 RefSeq | MGI Sequence Detail 630 BALB/c  
polypeptide NP_001265090 RefSeq | MGI Sequence Detail 147 BALB/c  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    45 from dbSNP Build 142
  • PCR
  • RFLP
Protein
Information
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Molecular
Reagents
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  • All nucleic 40
    Genomic 16
    cDNA 9
    Primer pair 14
    Other 1

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-10633, MGI:2145152, MGI:3821590
References
more
  • Summaries
    All 141
    Developmental Gene Expression 65
    Diseases 12
    Gene Ontology 3
    Phenotypes 53
  • Earliest
    J:5898 Tilghman SM, et al., Cloning specific segments of the mammalian genome: bacteriophage lambda containing mouse globin and surrounding gene sequences. Proc Natl Acad Sci U S A. 1977 Oct;74(10):4406-10
  • Latest
    J:230255 Kautz L, et al., Erythroferrone contributes to hepcidin suppression and iron overload in a mouse model of beta-thalassemia. Blood. 2015 Oct 22;126(17):2031-7

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
04/26/2016
MGI 6.03
The Jackson Laboratory