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Hbb-b1
Gene Detail
 Symbol
Name
ID
Hbb-b1
hemoglobin, beta adult major chain
MGI:96021
Strain-Specific Marker
Synonyms beta1, beta maj, beta major globin, MommeD7
Feature Type protein coding gene
Genetic Map
Chromosome 7
54.85 cM
Detailed Genetic Map ± 1 cM


Mapping data(6)
Vertebrate
homology
HomoloGene:68066  Vertebrate Homology Class
1 human; 2 mouse; 4 rat; 1 chimpanzee; 1 rhesus macaque; 2 cattle; 3 dog

Protein SuperFamily: globin

Human
homologs
Human Homolog HBB, hemoglobin, beta
NCBI Gene ID 3043
neXtProt AC  NX_P68871
Human Synonyms  beta-globin, CD113t-C
Human Chr (Location)  11p15.5; chr11:5225466-5227071 (-)  GRCh38
Disease Associations  (6) Diseases Associated with Human HBB
Alleles
and
phenotypes
All alleles(7) : Targeted(5) Chemically induced(2)
 
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.
 
Human Diseases Modeled Using Mouse Hbb-b1 (2)    Alleles Annotated to Human Diseases(4)   
Gene Ontology
(GO)
classifications
All GO classifications: (19 annotations)
Process erythrocyte development, hemopoiesis, ...
Component blood microparticle, extracellular vesicular exosome, ...
Function haptoglobin binding, hemoglobin alpha binding, ...
External Resources: FuncBase
Expression
Literature Summary: (62 records)
Data Summary: Results (200)    Tissues (59)    Images (35)
Theiler Stages: 10, 11, 12, 13, 14, 15, 17, 18, 19, 20, 21, 22, 23, 25, 26, 28
Assay TypeResults
RNA in situ 28
Northern blot 19
RT-PCR 145
Nuclease S1 8
cDNA source data(6)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(40) Genomic(16) cDNA(9) Primer pair(14) Other(1)
Microarray probesets(3)
Other database
links
Entrez Gene15129 (Evidence)
Sequences
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 sequences
All sequences(17) RefSeq(2)
Polymorphisms All PCR and RFLP(4) : PCR(1) RFLP(3) SNPs within 2kb(43 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
Protein Ontology PR:000008857 hemoglobin subunit beta-1
References (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:205514 Anderson ER, et al., Intestinal HIF2alpha promotes tissue-iron accumulation in disorders of iron overload with anemia. Proc Natl Acad Sci U S A. 2013 Dec 10;110(50):E4922-30
All references(136)
Other
accession IDs
MGD-MRK-10633, MGI:2145152, MGI:3821590

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
04/08/2014
MGI 5.17
The Jackson Laboratory