Disease Term | Human Homologs | Mouse Homologs | Mouse Models | Homology Source | |||
alpha thalassemia-X-linked intellectual disability syndrome | ATRX* | Atrx* | 3 models | Alliance of Genome Resources | |||
aplastic anemia | IFNG* | Ifng* | 1 model | Alliance of Genome Resources | |||
beta thalassemia | HBB*, HBD | Hbb-b1*, Hbb-b2, Hbb-bh2, Hbb-bs, Hbb-bt | 17 models | Alliance of Genome Resources | |||
congenital nonspherocytic hemolytic anemia | GPI* | Gpi1* | 2 models | Alliance of Genome Resources | |||
Diamond-Blackfan anemia 6 | RPL5* | Rpl5* | 1 model | Alliance of Genome Resources | |||
Diamond-Blackfan anemia 7 | RPL11* | Rpl11* | 1 model | Alliance of Genome Resources | |||
Fanconi anemia complementation group A | FANCA* | Fanca* | 3 models | Alliance of Genome Resources | |||
Fanconi anemia complementation group C | FANCC* | Fancc* | 2 models | Alliance of Genome Resources | |||
Fanconi anemia complementation group D1 | BRCA2* | Brca2* | 1 model | Alliance of Genome Resources | |||
Fanconi anemia complementation group D2 | FANCD2* | Fancd2* | 6 models | Alliance of Genome Resources | |||
hereditary spherocytosis type 1 | ANK1* | Ank1* | 4 models | Alliance of Genome Resources | |||
hereditary spherocytosis type 3 | SPTA1* | Spta1* | 5 models | Alliance of Genome Resources | |||
pyruvate kinase deficiency of red cells | PKLR* | Pklr* | 2 models | Alliance of Genome Resources | |||
aplastic anemia | RASA3 | Rasa3* | 1 model | Alliance of Genome Resources | |||
autoimmune hemolytic anemia | TSLP | Tslp* | 1 model | Alliance of Genome Resources | |||
beta thalassemia | KLF1 | Klf1* | 1 model | Alliance of Genome Resources | |||
congenital dyserythropoietic anemia | DIAPH3 | Diaph3* | 1 model | Alliance of Genome Resources | |||
congenital dyserythropoietic anemia | MAN2A1 | Man2a1* | 1 model | Alliance of Genome Resources | |||
Diamond-Blackfan anemia | FLVCR1 | Flvcr1* | 2 models | Alliance of Genome Resources | |||
Diamond-Blackfan anemia | RPSA | Rpsa* | 1 model | Alliance of Genome Resources | |||
Fanconi anemia | USP1 | Usp1* | 1 model | Alliance of Genome Resources | |||
hereditary spherocytosis | KLF1 | Klf1* | 1 model | Alliance of Genome Resources | |||
hereditary spherocytosis type 1 | SPTA1 | Spta1* | 3 models | Alliance of Genome Resources | |||
hereditary spherocytosis type 1 | EPB42 | Epb42* | 1 model | Alliance of Genome Resources | |||
hereditary spherocytosis type 1 | ADD2 | Add2* | 1 model | Alliance of Genome Resources | |||
hereditary spherocytosis type 4 | SLC4A1 | Slc4a1* | 1 model | Alliance of Genome Resources | |||
macrocytic anemia | KIT | Kit* | 3 models | Alliance of Genome Resources | |||
microcytic anemia | DNM2 | Dnm2* | 1 model | Alliance of Genome Resources | |||
pancytopenia | NUDT15 | Nudt15* | 2 models | Alliance of Genome Resources | |||
sickle cell anemia | SPTA1 | Spta1* | 1 model | Alliance of Genome Resources | |||
thalassemia | PPP1R15A | Ppp1r15a* | 1 model | Alliance of Genome Resources | |||
alpha thalassemia | GPX1* | Gpx1 | Alliance of Genome Resources | ||||
alpha thalassemia | HBB*, HBD | Hbb-b1, Hbb-b2, Hbb-bh2, Hbb-bs, Hbb-bt | Alliance of Genome Resources | ||||
alpha thalassemia | HBA1*, HBA2* | Hba-a1, Hba-a2 | 7 models | Alliance of Genome Resources | |||
anemia | MTHFR* | Mthfr | Alliance of Genome Resources | ||||
anemia | PON1* | Pon1 | Alliance of Genome Resources | ||||
anemia | ITPA* | Itpa | Alliance of Genome Resources | ||||
anemia | TF* | Trf | Alliance of Genome Resources | ||||
anemia | HK1* | Hk1 | Alliance of Genome Resources | ||||
anemia | SLC11A2* | Slc11a2 | Alliance of Genome Resources | ||||
anemia | ERCC1* | Ercc1 | Alliance of Genome Resources | ||||
anemia | G6PD* | G6pd2, G6pdx | Alliance of Genome Resources | ||||
anemia | EPHX1* | Ephx1 | Alliance of Genome Resources | ||||
anemia | GPX1* | Gpx1 | Alliance of Genome Resources | ||||
anemia | GH1*, CSH1, CSH2, CSHL1, GH2 | Gh | Alliance of Genome Resources | ||||
anemia | EPOR* | Epor | Alliance of Genome Resources | ||||
anemia | ANK1* | Ank1 | Alliance of Genome Resources | ||||
anemia | ACE* | Ace | Alliance of Genome Resources | ||||
aplastic anemia | TGFB1* | Tgfb1 | Alliance of Genome Resources | ||||
aplastic anemia | DKC1* | Dkc1 | Alliance of Genome Resources | ||||
aplastic anemia | EPHX1* | Ephx1 | Alliance of Genome Resources | ||||
aplastic anemia | GSTM1*, GSTM5 | Gstm1, Gstm2, Gstm3, Gstm6 | Alliance of Genome Resources | ||||
aplastic anemia | GSTT1* | Gstt1 | Alliance of Genome Resources | ||||
aplastic anemia | HLA-DQA1*, HLA-DQA2 | H2-Aa | Alliance of Genome Resources | ||||
aplastic anemia | HLA-DQB1*, HLA-DQB2 | H2-Ab1 | Alliance of Genome Resources | ||||
aplastic anemia | NBN* | Nbn | Alliance of Genome Resources | ||||
aplastic anemia | PRF1* | Prf1 | Alliance of Genome Resources | ||||
aplastic anemia | TNF* | Tnf | Alliance of Genome Resources | ||||
aplastic anemia | THPO* | Thpo | Alliance of Genome Resources | ||||
aplastic anemia | SBDS* | Sbds | Alliance of Genome Resources | ||||
autoimmune hemolytic anemia | CTLA4* | Ctla4 | Alliance of Genome Resources | ||||
autosomal dominant beta thalassemia | HBB*, HBD | Hbb-b1, Hbb-b2, Hbb-bh2, Hbb-bs, Hbb-bt | Alliance of Genome Resources | ||||
autosomal dominant sideroblastic anemia 4 | HSPA9* | Hspa9 | Alliance of Genome Resources | ||||
autosomal recessive pyridoxine-refractory sideroblastic anemia 2 | SLC25A38* | Slc25a38 | Alliance of Genome Resources | ||||
autosomal recessive pyridoxine-refractory sideroblastic anemia 3 | GLRX5* | Glrx5 | Alliance of Genome Resources | ||||
beta thalassemia | HLA-DQB1*, HLA-DQB2 | H2-Ab1 | Alliance of Genome Resources | ||||
beta thalassemia | BCL11A* | Bcl11a | Alliance of Genome Resources | ||||
beta thalassemia | COL1A1* | Col1a1 | Alliance of Genome Resources | ||||
beta thalassemia | GATA1* | Gata1 | Alliance of Genome Resources | ||||
beta thalassemia | GH1*, CSH1, CSH2, CSHL1, GH2 | Gh | Alliance of Genome Resources | ||||
beta thalassemia | GSTT1* | Gstt1 | Alliance of Genome Resources | ||||
beta thalassemia | HBS1L* | Hbs1l | Alliance of Genome Resources | ||||
beta thalassemia | HFE* | Hfe | Alliance of Genome Resources | ||||
beta thalassemia | TNF* | Tnf | Alliance of Genome Resources | ||||
congenital dyserythropoietic anemia | RACGAP1* | Racgap1 | Alliance of Genome Resources | ||||
congenital dyserythropoietic anemia | CDAN1* | Cdan1 | Alliance of Genome Resources | ||||
congenital dyserythropoietic anemia type Ia | CDAN1* | Cdan1 | Alliance of Genome Resources | ||||
congenital dyserythropoietic anemia type Ib | CDIN1* | Cdin1 | Alliance of Genome Resources | ||||
congenital dyserythropoietic anemia type II | SEC23B* | Sec23b | Alliance of Genome Resources | ||||
congenital dyserythropoietic anemia type III | KIF23* | Kif23 | 2 "NOT" models | Alliance of Genome Resources | |||
congenital dyserythropoietic anemia type IV | KLF1* | Klf1 | Alliance of Genome Resources | ||||
congenital hemolytic anemia | GPI* | Gpi1 | Alliance of Genome Resources | ||||
congenital hemolytic anemia | HBB*, HBD | Hbb-b1, Hbb-b2, Hbb-bh2, Hbb-bs, Hbb-bt | Alliance of Genome Resources | ||||
congenital hemolytic anemia | SLC4A1* | Slc4a1 | Alliance of Genome Resources | ||||
congenital nonspherocytic hemolytic anemia | PKLR* | Pklr | Alliance of Genome Resources | ||||
congenital nonspherocytic hemolytic anemia | HK1* | Hk1 | Alliance of Genome Resources | ||||
congenital nonspherocytic hemolytic anemia | G6PD* | G6pd2, G6pdx | Alliance of Genome Resources | ||||
congenital nonspherocytic hemolytic anemia | AK1* | Ak1 | Alliance of Genome Resources | ||||
dehydrated hereditary stomatocytosis 1 | PIEZO1* | Piezo1 | Alliance of Genome Resources | ||||
dehydrated hereditary stomatocytosis 2 | KCNN4* | Kcnn4 | Alliance of Genome Resources | ||||
delta beta-thalassemia | HBB*, HBD | Hbb-b1, Hbb-b2, Hbb-bh2, Hbb-bs, Hbb-bt | Alliance of Genome Resources | ||||
delta beta-thalassemia | HBG1*, HBG2*, HBE1 | Hbb-bh0, Hbb-bh1, Hbb-y | Alliance of Genome Resources | ||||
Diamond-Blackfan anemia | HEATR3* | Heatr3 | Alliance of Genome Resources | ||||
Diamond-Blackfan anemia | GH1*, CSH1, CSH2, CSHL1, GH2 | Gh | Alliance of Genome Resources | ||||
Diamond-Blackfan anemia | RPS19* | Rps19 | 4 models | Alliance of Genome Resources | |||
Diamond-Blackfan anemia 1 | RPS19* | Rps19 | Alliance of Genome Resources | ||||
Diamond-Blackfan anemia 10 | RPS26* | Rps26 | Alliance of Genome Resources | ||||
Diamond-Blackfan anemia 11 | RPL26* | Rpl26 | Alliance of Genome Resources | ||||
Diamond-Blackfan anemia 12 | RPL15* | Rpl15 | Alliance of Genome Resources | ||||
Diamond-Blackfan anemia 13 | RPS29* | Rps29 | Alliance of Genome Resources | ||||
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis | TSR2* | Tsr2 | Alliance of Genome Resources | ||||
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis | RPS28* | Rps28 | Alliance of Genome Resources | ||||
Diamond-Blackfan anemia 16 | RPL27* | Rpl27 | Alliance of Genome Resources | ||||
Diamond-Blackfan anemia 17 | RPS27* | Rps27, Rps27rt | Alliance of Genome Resources | ||||
Diamond-Blackfan anemia 18 | RPL18* | Rpl18 | Alliance of Genome Resources | ||||
Diamond-Blackfan anemia 19 | RPL35* | Rpl35, Rpl35rt | Alliance of Genome Resources | ||||
Diamond-Blackfan anemia 20 | RPS15A* | Rps15a | Alliance of Genome Resources | ||||
Diamond-blackfan anemia 3 | RPS24* | Rps24 | Alliance of Genome Resources | ||||
Diamond-Blackfan anemia 4 | RPS17* | Rps17 | Alliance of Genome Resources | ||||
Diamond-Blackfan anemia 5 | RPL35A* | Rpl35a | Alliance of Genome Resources | ||||
Diamond-Blackfan anemia 8 | RPS7* | Rps7 | Alliance of Genome Resources | ||||
Diamond-Blackfan anemia 9 | RPS10* | Rps10 | Alliance of Genome Resources | ||||
Fanconi anemia | GSTM1*, GSTM5 | Gstm1, Gstm2, Gstm3, Gstm6 | Alliance of Genome Resources | ||||
Fanconi anemia | FANCI* | Fanci | Alliance of Genome Resources | ||||
Fanconi anemia | FANCG* | Fancg | Alliance of Genome Resources | ||||
Fanconi anemia | FANCD2* | Fancd2 | Alliance of Genome Resources | ||||
Fanconi anemia | FANCC* | Fancc | Alliance of Genome Resources | ||||
Fanconi anemia | FANCA* | Fanca | Alliance of Genome Resources | ||||
Fanconi anemia | BRCA2* | Brca2 | Alliance of Genome Resources | ||||
Fanconi anemia | GSTT1* | Gstt1 | Alliance of Genome Resources | ||||
Fanconi anemia complementation group B | FANCB* | Fancb | Alliance of Genome Resources | ||||
Fanconi anemia complementation group E | FANCE* | Fance | Alliance of Genome Resources | ||||
Fanconi anemia complementation group F | FANCF* | Fancf | Alliance of Genome Resources | ||||
Fanconi anemia complementation group G | FANCG* | Fancg | Alliance of Genome Resources | ||||
Fanconi anemia complementation group I | FANCI* | Fanci | Alliance of Genome Resources | ||||
Fanconi anemia complementation group J | BRIP1* | Brip1 | Alliance of Genome Resources | ||||
Fanconi anemia complementation group L | FANCL* | Fancl | Alliance of Genome Resources | ||||
Fanconi anemia complementation group N | PALB2* | Palb2 | Alliance of Genome Resources | ||||
Fanconi anemia complementation group O | RAD51C* | Rad51c | Alliance of Genome Resources | ||||
Fanconi anemia complementation group P | SLX4* | Slx4 | 1 "NOT" model | Alliance of Genome Resources | |||
Fanconi anemia complementation group Q | ERCC4* | Ercc4 | Alliance of Genome Resources | ||||
Fanconi anemia complementation group R | RAD51* | Rad51 | Alliance of Genome Resources | ||||
Fanconi anemia complementation group S | BRCA1* | Brca1 | Alliance of Genome Resources | ||||
Fanconi anemia complementation group T | UBE2T* | Ube2t | Alliance of Genome Resources | ||||
Fanconi anemia complementation group U | XRCC2* | Xrcc2 | Alliance of Genome Resources | ||||
Fanconi anemia complementation group V | MAD2L2* | Mad2l2 | Alliance of Genome Resources | ||||
Fanconi anemia complementation group W | RFWD3* | Rfwd3 | Alliance of Genome Resources | ||||
Heinz body anemia | HBB*, HBD | Hbb-b1, Hbb-b2, Hbb-bh2, Hbb-bs, Hbb-bt | Alliance of Genome Resources | ||||
Heinz body anemia | HBA1*, HBA2* | Hba-a1, Hba-a2 | Alliance of Genome Resources | ||||
hemoglobin C disease | HBB*, HBD | Hbb-b1, Hbb-b2, Hbb-bh2, Hbb-bs, Hbb-bt | Alliance of Genome Resources | ||||
hemoglobin H disease | HBA1*, HBA2* | Hba-a1, Hba-a2 | Alliance of Genome Resources | ||||
hemoglobinopathy | HBB*, HBD | Hbb-b1, Hbb-b2, Hbb-bh2, Hbb-bs, Hbb-bt | Alliance of Genome Resources | ||||
hemolytic anemia | AK1* | Ak1 | Alliance of Genome Resources | ||||
hemolytic anemia | RHAG* | Rhag | Alliance of Genome Resources | ||||
hemolytic anemia | PGK1* | Pgk1 | Alliance of Genome Resources | ||||
hemolytic anemia | ITPA* | Itpa | Alliance of Genome Resources | ||||
hemolytic anemia | HP*, HPR | Hp | Alliance of Genome Resources | ||||
hemolytic anemia | GCLC* | Gclc | Alliance of Genome Resources | ||||
hemolytic anemia | FCGR2A*, FCGR2B, FCGR2C | Fcgr2b, Fcgr3 | Alliance of Genome Resources | ||||
hemolytic anemia | ABO* | Abo | Alliance of Genome Resources | ||||
hemolytic disease of the fetus | FCGR2A*, FCGR2B, FCGR2C | Fcgr2b, Fcgr3 | Alliance of Genome Resources | ||||
hereditary spherocytosis | SPTB* | Sptb | Alliance of Genome Resources | ||||
hereditary spherocytosis | SLC4A1* | Slc4a1 | Alliance of Genome Resources | ||||
hereditary spherocytosis | ANK1* | Ank1 | Alliance of Genome Resources | ||||
hereditary spherocytosis | SPTA1* | Spta1 | Alliance of Genome Resources | ||||
hereditary spherocytosis | EPB42* | Epb42 | Alliance of Genome Resources | ||||
hereditary spherocytosis type 2 | SPTB* | Sptb | Alliance of Genome Resources | ||||
hereditary spherocytosis type 5 | EPB42* | Epb42 | Alliance of Genome Resources | ||||
hypochromic anemia | SLC11A2* | Slc11a2 | Alliance of Genome Resources | ||||
hypochromic microcytic anemia | TNF* | Tnf | Alliance of Genome Resources | ||||
iron deficiency anemia | ITGA2* | Itga2 | Alliance of Genome Resources | ||||
iron deficiency anemia | HFE* | Hfe | Alliance of Genome Resources | ||||
iron deficiency anemia | GPX1* | Gpx1 | Alliance of Genome Resources | ||||
iron deficiency anemia | TF* | Trf | Alliance of Genome Resources | ||||
iron deficiency anemia | TNF* | Tnf | Alliance of Genome Resources | ||||
iron deficiency anemia | PON1* | Pon1 | Alliance of Genome Resources | ||||
megaloblastic anemia | AMN* | Amn | Alliance of Genome Resources | ||||
megaloblastic anemia | TCN2* | Tcn2 | Alliance of Genome Resources | ||||
megaloblastic anemia | SLC19A2* | Slc19a2 | Alliance of Genome Resources | ||||
methemoglobinemia | CYB5R3* | Cyb5r3 | Alliance of Genome Resources | ||||
methemoglobinemia | CYB5A* | Cyb5a | Alliance of Genome Resources | ||||
microcytic anemia | TMPRSS6* | Tmprss6 | Alliance of Genome Resources | ||||
overhydrated hereditary stomatocytosis | RHAG* | Rhag | Alliance of Genome Resources | ||||
pancytopenia | FANCC* | Fancc | Alliance of Genome Resources | ||||
pernicious anemia | CBLIF* | Cblif | Alliance of Genome Resources | ||||
pure red-cell aplasia | HLA-DQB1*, HLA-DQB2 | H2-Ab1 | Alliance of Genome Resources | ||||
pure red-cell aplasia | HLA-DRB1*, HLA-DRB3, HLA-DRB4, HLA-DRB5 | H2-Eb1, H2-Eb2 | Alliance of Genome Resources | ||||
Rh deficiency syndrome | RHAG* | Rhag | 2 "NOT" models | Alliance of Genome Resources | |||
sickle cell anemia | CYP2C19*, CYP2C8, CYP2C9, CYP2C18 | Cyp2c29, Cyp2c37, Cyp2c38, Cyp2c39, Cyp2c50, Cyp2c55, Cyp2c65, Cyp2c66 | Alliance of Genome Resources | ||||
sickle cell anemia | GCH1* | Gch1 | Alliance of Genome Resources | ||||
sickle cell anemia | GPX1* | Gpx1 | Alliance of Genome Resources | ||||
sickle cell anemia | C3* | C3 | Alliance of Genome Resources | ||||
sickle cell anemia | HLA-DQB1*, HLA-DQB2 | H2-Ab1 | Alliance of Genome Resources | ||||
sickle cell anemia | BCL11A* | Bcl11a | Alliance of Genome Resources | ||||
sickle cell anemia | APOB* | Apob | Alliance of Genome Resources | ||||
sickle cell anemia | ALAD* | Alad | Alliance of Genome Resources | ||||
sickle cell anemia | HBB*, HBD | Hbb-b1, Hbb-b2, Hbb-bh2, Hbb-bs, Hbb-bt | 7 models | Alliance of Genome Resources | |||
sickle cell anemia | HBE1*, HBG2*, HBG1 | Hbb-bh0, Hbb-bh1, Hbb-y | Alliance of Genome Resources | ||||
sickle cell anemia | HMBS* | Hmbs | Alliance of Genome Resources | ||||
sickle cell anemia | MTHFR* | Mthfr | Alliance of Genome Resources | ||||
sickle cell anemia | NOS3* | Nos3 | Alliance of Genome Resources | ||||
sickle cell anemia | GSTT1* | Gstt1 | Alliance of Genome Resources | ||||
sickle cell anemia | CFB* | Cfb | Alliance of Genome Resources | ||||
sideroblastic anemia | CALR* | Calr | Alliance of Genome Resources | ||||
sideroblastic anemia | ALAS2* | Alas2 | Alliance of Genome Resources | ||||
sideroblastic anemia | HSCB* | Hscb | Alliance of Genome Resources | ||||
sideroblastic anemia 1 | ALAS2* | Alas2 | Alliance of Genome Resources | ||||
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay | TRNT1* | Trnt1 | Alliance of Genome Resources | ||||
thalassemia | GSTM1*, GSTM5 | Gstm1, Gstm2, Gstm3, Gstm6 | Alliance of Genome Resources | ||||
X-linked congenital hemolytic anemia | ATP11C* | Atp11c | Alliance of Genome Resources | ||||
X-linked dyserythropoietic anemia | GATA1* | Gata1 | Alliance of Genome Resources | ||||
X-linked sideroblastic anemia with ataxia | ABCB7* | Abcb7 | Alliance of Genome Resources |
Transgenes and other genome features developed in mice to model this disease.
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Disease Term | Transgenes and Other Genome Features | Mouse Models | |
alpha thalassemia | Hba | 8 models | |
autoimmune hemolytic anemia | Tg(tetO/CMV-Tslp)#Sfz | 1 model | |
beta thalassemia | Rr320 | 2 models | |
beta thalassemia | Hbb | 6 models | |
Diamond-Blackfan anemia | Tg(CAG-RPS19*R62W)#Dmb | 1 model |