Disease Term | Human Homologs | Mouse Homologs | Mouse Models | Homology Source | |||
adenosine deaminase deficiency | ADA* | Ada* | 1 model | Alliance of Genome Resources | |||
DNA ligase IV deficiency | LIG4* | Lig4* | 2 models | Alliance of Genome Resources | |||
immunodeficiency 15A | IKBKB* | Ikbkb* | 2 models | Alliance of Genome Resources | |||
immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia | RAC2* | Rac2* | 1 model | Alliance of Genome Resources | |||
leukocyte adhesion deficiency 1 | ITGB2* | Itgb2*, Itgb2l | 3 models | Alliance of Genome Resources | |||
leukocyte adhesion deficiency 3 | FERMT3* | Fermt3* | 1 model | Alliance of Genome Resources | |||
MHC class II deficiency | CIITA* | Ciita* | 2 models | Alliance of Genome Resources | |||
Omenn syndrome | RAG2* | Rag2* | 1 model | Alliance of Genome Resources | |||
purine nucleoside phosphorylase deficiency | PNP* | Pnp*, Pnp2 | 5 models | Alliance of Genome Resources | |||
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive | RAG2* | Rag2* | 1 model | Alliance of Genome Resources | |||
severe combined immunodeficiency with sensitivity to ionizing radiation | DCLRE1C* | Dclre1c* | 2 models | Alliance of Genome Resources | |||
T-cell immunodeficiency, congenital alopecia, and nail dystrophy | FOXN1* | Foxn1* | 4 models | Alliance of Genome Resources | |||
combined immunodeficiency | COPG1 | Copg1* | 1 model | Alliance of Genome Resources | |||
leukocyte adhesion deficiency 3 | RASGRP2 | Rasgrp2* | 1 model | Alliance of Genome Resources | |||
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive | PRKDC | Prkdc* | 1 model | Alliance of Genome Resources | |||
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive | JAK3 | Jak3* | 2 models | Alliance of Genome Resources | |||
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive | CORO1A | Coro1a* | 4 models | Alliance of Genome Resources | |||
CD40 ligand deficiency | CD40LG* | Cd40lg | Alliance of Genome Resources | ||||
combined cellular and humoral immune defects with granulomas | RAG1* | Rag1 | Alliance of Genome Resources | ||||
combined cellular and humoral immune defects with granulomas | RAG2* | Rag2 | Alliance of Genome Resources | ||||
combined T cell and B cell immunodeficiency | CD40LG* | Cd40lg | Alliance of Genome Resources | ||||
combined T cell and B cell immunodeficiency | IL2RG* | Il2rg | 3 "NOT" models | Alliance of Genome Resources | |||
coronin-1A deficiency | CORO1A* | Coro1a | Alliance of Genome Resources | ||||
immunodeficiency 11A | CARD11* | Card11 | Alliance of Genome Resources | ||||
immunodeficiency 12 | MALT1* | Malt1 | Alliance of Genome Resources | ||||
immunodeficiency 14 | PIK3CD* | Pik3cd | Alliance of Genome Resources | ||||
immunodeficiency 15B | IKBKB* | Ikbkb | Alliance of Genome Resources | ||||
immunodeficiency 16 | TNFRSF4* | Tnfrsf4 | Alliance of Genome Resources | ||||
immunodeficiency 19 | CD3D* | Cd3d | Alliance of Genome Resources | ||||
immunodeficiency 22 | LCK* | Lck | Alliance of Genome Resources | ||||
immunodeficiency 23 | PGM3* | Pgm3 | Alliance of Genome Resources | ||||
immunodeficiency 24 | CTPS1* | Ctps1 | 1 "NOT" model | Alliance of Genome Resources | |||
immunodeficiency 26 | PRKDC* | Prkdc | Alliance of Genome Resources | ||||
immunodeficiency 32B | IRF8* | Irf8 | Alliance of Genome Resources | ||||
immunodeficiency 33 | IKBKG* | Ikbkg | Alliance of Genome Resources | ||||
immunodeficiency 36 | PIK3R1* | Pik3r1 | Alliance of Genome Resources | ||||
immunodeficiency 37 | BCL10* | Bcl10 | Alliance of Genome Resources | ||||
immunodeficiency 40 | DOCK2* | Dock2 | Alliance of Genome Resources | ||||
immunodeficiency 41 | IL2RA* | Il2ra | Alliance of Genome Resources | ||||
immunodeficiency 46 | TFRC* | Tfrc | Alliance of Genome Resources | ||||
immunodeficiency 50 | MSN* | Msn | Alliance of Genome Resources | ||||
immunodeficiency 53 | RELB* | Relb | Alliance of Genome Resources | ||||
immunodeficiency 55 | GINS1* | Gins1 | Alliance of Genome Resources | ||||
immunodeficiency 56 | IL21R* | Il21r | Alliance of Genome Resources | ||||
immunodeficiency 58 | CARMIL2* | Carmil2 | Alliance of Genome Resources | ||||
immunodeficiency 59 | HYOU1* | Hyou1 | Alliance of Genome Resources | ||||
immunodeficiency 60 | BACH2* | Bach2 | Alliance of Genome Resources | ||||
immunodeficiency 64 | RASGRP1* | Rasgrp1 | Alliance of Genome Resources | ||||
immunodeficiency 70 | IVNS1ABP* | Ivns1abp | Alliance of Genome Resources | ||||
immunodeficiency 71 | ARPC1B* | Arpc1b | Alliance of Genome Resources | ||||
immunodeficiency 72 | NCKAP1L* | Nckap1l | Alliance of Genome Resources | ||||
immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis | RAC2* | Rac2 | Alliance of Genome Resources | ||||
immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia | RAC2* | Rac2 | Alliance of Genome Resources | ||||
leukocyte adhesion deficiency | ITGB2* | Itgb2, Itgb2l | Alliance of Genome Resources | ||||
leukocyte adhesion deficiency 1 | FERMT3* | Fermt3 | Alliance of Genome Resources | ||||
MHC class I deficiency | TAP1* | Tap1 | Alliance of Genome Resources | ||||
Omenn syndrome | RAG1* | Rag1 | 1 "NOT" model | Alliance of Genome Resources | |||
Omenn syndrome | DCLRE1C* | Dclre1c | Alliance of Genome Resources | ||||
reticular dysgenesis | AK2* | Ak2 | Alliance of Genome Resources | ||||
severe combined immunodeficiency | RAG2* | Rag2 | Alliance of Genome Resources | ||||
severe combined immunodeficiency | IL7R* | Il7r | Alliance of Genome Resources | ||||
severe combined immunodeficiency | JAK3* | Jak3 | Alliance of Genome Resources | ||||
severe combined immunodeficiency | DCLRE1C* | Dclre1c | Alliance of Genome Resources | ||||
severe combined immunodeficiency | CD3D* | Cd3d | Alliance of Genome Resources | ||||
severe combined immunodeficiency | ADA* | Ada | Alliance of Genome Resources | ||||
severe combined immunodeficiency | RAG1* | Rag1 | Alliance of Genome Resources | ||||
severe combined immunodeficiency | NHEJ1* | Nhej1 | Alliance of Genome Resources | ||||
severe combined immunodeficiency | PTPRC* | Ptprc | Alliance of Genome Resources | ||||
severe combined immunodeficiency | ZAP70* | Zap70 | Alliance of Genome Resources | ||||
severe combined immunodeficiency | TAPBP* | Tapbp | Alliance of Genome Resources | ||||
severe combined immunodeficiency | RFXANK* | Rfxank | Alliance of Genome Resources | ||||
severe combined immunodeficiency | RFX5* | Rfx5 | Alliance of Genome Resources | ||||
severe combined immunodeficiency | IL2RG* | Il2rg | Alliance of Genome Resources | ||||
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive | RAG1* | Rag1 | Alliance of Genome Resources | ||||
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia | MAGT1* | Magt1 | Alliance of Genome Resources | ||||
X-linked severe combined immunodeficiency | IL2RG* | Il2rg | 3 "NOT" models | 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 | |
adenosine deaminase deficiency | Tg(PLADA)4118Rkmb | 1 model |