About   Help   FAQ
Human Disease and Mouse Model Detail
Human Disease

Term: Beta-Thalassemia
OMIM ID: 613985

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...
     
Ahsp AHSP
Hbb-b1 none identified
Hbb-b2 none identified
Klf1 KLF1
  mouse...the mouse gene.
     OMIM data currently do not associate this disease with the orthologous human gene.
     
Transgenes and
other mutation types
Hbb   Characteristics of this human disease are associated with transgenes and other mutation types in mouse.
Hbb-ar

Mouse Models

Genotype Ref(s)
Allelic Composition Note Genetic Background
Models with phenotypic similarity to human disease where etiologies are distinct.1
Ahsptm1.1Mjwe/Ahsp+
Hbb-b1tm1Unc/Hbb-b1+
Hbb-b2tm1Unc/Hbb-b2+
  involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6 J:94421
Ahsptm1.1Mjwe/Ahsptm1.1Mjwe
Hbb-b1tm1Unc/Hbb-b1+
Hbb-b2tm1Unc/Hbb-b2+
  involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6 J:94421
Ahsptm1Mjwe/Ahsptm1Mjwe
Hbb-b1tm1Unc/Hbb-b1+
Hbb-b2tm1Unc/Hbb-b2+
  involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6 J:94421
Ahsptm1Mjwe/Ahsp+
Hbb-b1tm1Unc/Hbb-b1+
Hbb-b2tm1Unc/Hbb-b2+
  involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6 J:94421
Hbb-b1MommeD7/Hbb-b1MommeD7   involves: FVB/N J:190446
Hbb-b1Rbc13/Hbb-b1Rbc13   involves: BALB/c * C57BL/6 J:190446
Hbb-b1tm1Unc/Hbb-b1+
Hbb-b2tm1Unc/Hbb-b2+
  involves: 129P2/OlaHsd * C57BL/6N J:185154
Hbb-b1tm1Unc/Hbb-b1+
Hbb-b2tm1Unc/Hbb-b2+
  involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6 J:94421
Hbb-b1tm1Unc/Hbb-b1+
Hbb-b2tm1Unc/Hbb-b2+
  involves: 129P2/OlaHsd * C57BL/6J J:30155
Klf1tm1Sho/Klf1tm1Sho   involves: 129S4/SvJae * C57BL/6 J:25651
Models involving transgenes or other mutation types.2
Hbb-artm1.1Mkg/Hbb-ar+   involves: 129 J:60714
Hbb-artm2Mkg/Hbb-artm2Mkg   involves: 129S4/SvJaeSor J:28981
Hbbd3th/Hbbd3th   involves: C57BL/6 * DBA/2J J:7209
Hbbtm1Unc/Hbbtm1Unc   involves: 129P2/OlaHsd * C57BL/6J J:4932
Hbbtm2Unc/Hbb+   involves: 129P2/OlaHsd * C57BL/6J J:64295
No similarity to the expected human disease phenotype was found.3
NOT Del(7Olfr64-Hbb-ar)1Mkg/+   involves: 129 J:139198

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.
3The mouse gene may involve mutations to orthologs of human genes which may be causal in humans, but the phenotype did not resemble the disease.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
04/03/2013
MGI 5.12
The Jackson Laboratory