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Hbb-b1
Gene Detail
Symbol

Name
ID
Member of
Hbb-b1
hemoglobin, beta adult major chain
MGI:96021
Hbb cluster
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
Protein SuperFamily: globin
Mutations,
alleles, and
phenotypes
All mutations/alleles(7) : Chemically induced (ENU)(2) Targeted(5)
Incidental mutations (data from Mutagenetix , APF )
 
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: (7 annotations)
Process erythrocyte development, hemopoiesis, ...
Component hemoglobin complex
Function oxygen transporter activity
External Resources: FuncBase
Expression
Literature Summary: (64 records)
Data Summary: Results (200)    Tissues (59)    Images (35)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 28
Northern blot 19
RT-PCR 145
Nuclease S1 8
cDNA source data(6)
External Resources: Allen Institute   GEO  
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:211331 Kautz L, et al., Identification of erythroferrone as an erythroid regulator of iron metabolism. Nat Genet. 2014 Jul;46(7):678-84
All references(139)
Disease annotation references (7)
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
12/09/2014
MGI 5.20
The Jackson Laboratory