beta thalassemia Disease Ontology Browser

Disease Ontology Browser

beta thalassemia (DOID:12241)
Alliance: disease page
Alt IDs: OMIM:613985, ICD10CM:D56.1, ICD9CM:282.44, MESH:D017086, NCI:C34375, ORDO:848, UMLS_CUI:C0005283
Definition: A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin.

Term Browser
Genes (14)
Models (21)

Disease References using Mouse Models (25)

Mouse Models

Human Disease Modeled: beta thalassemia
Associated Mouse Gene: Hbb-b1

Allelic Composition	Genetic Background	Reference	Phenotypes
Hbbd3th/Hbbd3th	involves: C57BL/6 * DBA/2J	J:7209	View
Hbb-b1MommeD7/Hbb-b1MommeD7	involves: FVB/N	J:190446	View
Hbb-b1Rbc13/Hbb-b1Rbc13	involves: BALB/c * C57BL/6	J:190446	View
Hbb-b1tm1Unc/Hbb-b1+ Hbb-b2tm1Unc/Hbb-b2+	B6;129-Hbb-b1^tm1Unc Hbb-b2^tm1Unc/J	J:211331	View
Hbb-b1tm1Unc/Hbb-b1+ Hbb-b2tm1Unc/Hbb-b2+ Tg(HBB*)L2Pai/0	involves: 129P2/OlaHsd * C57BL/6	J:97548	View
Hbatm1(HBA)Tow/Hbatm1(HBA)Tow Hbbtm2(HBG1,HBD,HBB)Ryan/Hbbtm2(HBG1,HBD,HBB)Ryan	Not Specified	J:148521	View
Hbbtm2Unc/Hbb+	involves: 129P2/OlaHsd * C57BL/6J	J:64295	View
Hbbtm1.1(HBG1,HBB*)Ryan/Hbb+	involves: C57BL/6J	J:147906	View
Hbb-b1tm1Unc/Hbb-b1+ Hbb-b2tm1Unc/Hbb-b2+	involves: 129P2/OlaHsd	J:154187	View
Ahsptm1.1Mjwe/Ahsp+ Hbb-b1tm1Unc/Hbb-b1+ Hbb-b2tm1Unc/Hbb-b2+	involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6	J:94421	View
Hbatm1(HBA)Tow/Hbatm1(HBA)Tow Hbbtm2(HBG1,HBD,HBB*)Ryan/Hbbtm3(HBG1,HBB)Tow	Not Specified	J:148521	View
Ahsptm1.1Mjwe/Ahsptm1.1Mjwe Hbb-b1tm1Unc/Hbb-b1+ Hbb-b2tm1Unc/Hbb-b2+	involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6	J:94421	View
Ahsptm1Mjwe/Ahsp+ Hbb-b1tm1Unc/Hbb-b1+ Hbb-b2tm1Unc/Hbb-b2+	involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6	J:94421	View
Ahsptm1Mjwe/Ahsptm1Mjwe Hbb-b1tm1Unc/Hbb-b1+ Hbb-b2tm1Unc/Hbb-b2+	involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6	J:94421	View
Hbb-b1tm1Unc/Hbb-b1+ Hbb-b2tm1Unc/Hbb-b2+	involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6	J:94421	View
Hbb-b1tm1Unc/Hbb-b1+ Hbb-b2tm1Unc/Hbb-b2+	involves: 129P2/OlaHsd * C57BL/6J	J:30155	View
Hbb-b1tm1Unc/Hbb-b1+ Hbb-b2tm1Unc/Hbb-b2+	involves: 129P2/OlaHsd * C57BL/6N	J:185154	View

Mouse Models

Human Disease Modeled: beta thalassemia
Associated Mouse Gene: Klf1

Allelic Composition	Genetic Background	Reference	Phenotypes
Klf1tm1Sho/Klf1tm1Sho	involves: 129S4/SvJae * C57BL/6	J:25651	View

Mouse Models

Human Disease Modeled: beta thalassemia
Associated Mouse Complex/Cluster/Region: Hbb

Allelic Composition	Genetic Background	Reference	Phenotypes
Hbbd3th/Hbbd3th	involves: C57BL/6 * DBA/2J	J:7209	View
Hbbtm1Unc/Hbbtm1Unc	involves: 129P2/OlaHsd * C57BL/6J	J:4932	View
Hbatm1(HBA)Tow/Hbatm1(HBA)Tow Hbbtm2(HBG1,HBD,HBB)Ryan/Hbbtm2(HBG1,HBD,HBB)Ryan	Not Specified	J:148521	View
Hbbtm2Unc/Hbb+	involves: 129P2/OlaHsd * C57BL/6J	J:64295	View
Hbbtm1.1(HBG1,HBB*)Ryan/Hbb+	involves: C57BL/6J	J:147906	View
Hbatm1(HBA)Tow/Hbatm1(HBA)Tow Hbbtm2(HBG1,HBD,HBB*)Ryan/Hbbtm3(HBG1,HBB)Tow	Not Specified	J:148521	View

Mouse Models

Human Disease Modeled: beta thalassemia
Associated Mouse Other Genome Feature: Rr320

Allelic Composition	Genetic Background	Reference	Phenotypes
Rr320tm2Mkg/Rr320tm2Mkg	involves: 129S4/SvJaeSor	J:28981	View
Rr320tm1.1Mkg/Rr320+	involves: 129	J:60714	View

NOT Models
No similarity to the expected human disease phenotype was found.

Allelic Composition	Genetic Background	Reference	Phenotypes
Del(7Or2h1-Rr320)1Mkg/+	involves: 129	J:139198	View

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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