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Human Disease and Mouse Model Detail
Human Disease

Term: Sickle Cell Anemia
OMIM ID: 603903

Associated Genes

Orthologous mouse and human markers where mutations in one or both species have been associated with phenotypes characteristic of this disease.

Mouse Gene
Human Gene
 
Characteristics of this human disease are associated with mutations in...
     
Spta1 SPTA1
  mouse...the mouse gene.
     OMIM data currently do not associate this disease with the orthologous human gene.
     
Transgenes and
other mutation types
Hba   Characteristics of this human disease are associated with transgenes and other mutation types in mouse.
Hbb
Tg(HBA-HBBs)41Paz
Tg(HBB-AR-HBA2,-HBB*)58Rub
Tg(LCR-HBA2,LCR-HBB)11Cos

Mouse Models

Genotype Ref(s)
Allelic Composition Note Genetic Background
Models with phenotypic similarity to human disease where etiologies are distinct.1
Spta1sph-ha/Spta1sph-ha   either:(B6.D1-Spta1sph-ha x WB.D1-Spta1sph-ha)F1 or (WB.D1-Spta1sph-ha x B6.D1-Spta1sph-ha)F1 J:12830
Models involving transgenes or other mutation types.2
Hbatm1(HBA)Tow/Hbatm1(HBA)Tow
Hbbtm2(HBG1,HBB*)Tow/Hbbtm2(HBG1,HBB*)Tow
  Not Specified J:134980
Hbatm1Paz/Hbatm1Paz
Hbbtm1Tow/Hbbtm1Tow
Tg(HBA-HBBs)41Paz/?
  involves: 129S2/SvPas * 129S7/SvEvBrd * Black Swiss * C57BL/6 * DBA/2* FVB/N J:44161
Hbbd3th/Hbb+
Tg(HBB-AR-HBA2,-HBB*)58Rub/0
Tg(LCR-HBA2,LCR-HBB)11Cos/0
  involves: FVB/N * Swiss Webster J:94190
Hbbd3th/Hbbd3th
Tg(HBB-AR-HBA2,-HBB*)58Rub/0
Tg(LCR-HBA2,LCR-HBB)11Cos/0
  involves: FVB/N * Swiss Webster J:94190

1Human genes are associated with this disease. Mouse model genotypes do not include mutations in the orthologs of these human genes.
2Models involving transgenes or other mutation types may also appear in other sections of the table.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/03/2013
MGI 5.12
The Jackson Laboratory