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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