Disease Term | Human Homologs | Mouse Homologs | Mouse Models | Homology Source | |||
autosomal recessive hypercholesterolemia | LDLRAP1* | Ldlrap1* | 2 models | Alliance of Genome Resources | |||
carnitine palmitoyltransferase I deficiency | CPT1A* | Cpt1a* | 1 model | Alliance of Genome Resources | |||
chylomicron retention disease | SAR1B* | Sar1b* | 2 models | Alliance of Genome Resources | |||
congenital adrenal hyperplasia | STAR* | Star* | 1 model | Alliance of Genome Resources | |||
congenital adrenal hyperplasia | CYP11B1*, CYP11B2 | Cyp11b1*, Cyp11b2 | 1 model | Alliance of Genome Resources | |||
congenital bile acid synthesis defect 5 | ABCD3* | Abcd3* | 1 model | Alliance of Genome Resources | |||
familial hypercholesterolemia | LDLR* | Ldlr* | 7 models | Alliance of Genome Resources | |||
familial lipoprotein lipase deficiency | LPL* | Lpl* | 4 models | Alliance of Genome Resources | |||
medium chain acyl-CoA dehydrogenase deficiency | ACADM* | Acadm* | 1 model | Alliance of Genome Resources | |||
Norum disease | LCAT* | Lcat* | 2 models | Alliance of Genome Resources | |||
Refsum disease | PHYH* | Phyh* | 1 model | Alliance of Genome Resources | |||
short chain acyl-CoA dehydrogenase deficiency | ACADS* | Acads* | 1 model | Alliance of Genome Resources | |||
Smith-Lemli-Opitz syndrome | DHCR7* | Dhcr7* | 5 models | Alliance of Genome Resources | |||
Tangier disease | ABCA1* | Abca1* | 7 models | Alliance of Genome Resources | |||
very long chain acyl-CoA dehydrogenase deficiency | ACADVL* | Acadvl* | 3 models | Alliance of Genome Resources | |||
chylomicron retention disease | PITPNA | Pitpna* | 2 models | Alliance of Genome Resources | |||
familial hypobetalipoproteinemia 2 | APOB | Apob* | 2 models | Alliance of Genome Resources | |||
very long chain acyl-CoA dehydrogenase deficiency | ACADL | Acadl* | 1 model | Alliance of Genome Resources | |||
abetalipoproteinemia | MTTP* | Mttp | Alliance of Genome Resources | ||||
apolipoprotein C-III deficiency | APOC3* | Apoc3 | Alliance of Genome Resources | ||||
apparent mineralocorticoid excess syndrome | HSD11B2* | Hsd11b2 | Alliance of Genome Resources | ||||
carnitine-acylcarnitine translocase deficiency | SLC25A20* | Slc25a20 | Alliance of Genome Resources | ||||
CK syndrome | NSDHL* | Nsdhl | Alliance of Genome Resources | ||||
congenital adrenal hyperplasia | CYP21A2*, CYP21A1P | Cyp21a1 | Alliance of Genome Resources | ||||
congenital adrenal hyperplasia | CYP11A1* | Cyp11a1 | Alliance of Genome Resources | ||||
congenital adrenal hyperplasia | CYP17A1* | Cyp17a1 | Alliance of Genome Resources | ||||
congenital adrenal hyperplasia | POR* | Por | Alliance of Genome Resources | ||||
congenital bile acid synthesis defect 1 | HSD3B7* | Hsd3b7 | Alliance of Genome Resources | ||||
congenital bile acid synthesis defect 2 | AKR1D1* | Akr1d1 | Alliance of Genome Resources | ||||
congenital bile acid synthesis defect 3 | CYP7B1* | Cyp7b1 | Alliance of Genome Resources | ||||
congenital bile acid synthesis defect 4 | AMACR* | Amacr | Alliance of Genome Resources | ||||
congenital bile acid synthesis defect 6 | ACOX2* | Acox2 | Alliance of Genome Resources | ||||
cytochrome P450 oxidoreductase deficiency | POR* | Por | Alliance of Genome Resources | ||||
familial apolipoprotein A5 deficiency | APOA5* | Apoa5 | Alliance of Genome Resources | ||||
familial apolipoprotein C-II deficiency | APOC2* | Apoc2, Apoc2l | Alliance of Genome Resources | ||||
familial combined hyperlipidemia | ADD1* | Add1 | Alliance of Genome Resources | ||||
familial combined hyperlipidemia | APOE* | Apoe | 1 model | Alliance of Genome Resources | |||
familial combined hyperlipidemia | HNF4A* | Hnf4a | Alliance of Genome Resources | ||||
familial combined hyperlipidemia | LIPC* | Lipc | Alliance of Genome Resources | ||||
familial combined hyperlipidemia | LPL* | Lpl | 1 model | Alliance of Genome Resources | |||
familial combined hyperlipidemia | APOC3* | Apoc3 | Alliance of Genome Resources | ||||
familial GPIHBP1 deficiency | GPIHBP1* | Gpihbp1 | Alliance of Genome Resources | ||||
familial hypercholesterolemia | MTTP* | Mttp | Alliance of Genome Resources | ||||
familial hypercholesterolemia | PCSK9* | Pcsk9 | Alliance of Genome Resources | ||||
familial hypercholesterolemia | PPP1R17* | Ppp1r17 | Alliance of Genome Resources | ||||
familial hypercholesterolemia | PON2* | Pon2 | Alliance of Genome Resources | ||||
familial hypercholesterolemia | ADRB2* | Adrb2 | Alliance of Genome Resources | ||||
familial hypercholesterolemia | APOA1* | Apoa1 | Alliance of Genome Resources | ||||
familial hypercholesterolemia | APOB* | Apob | Alliance of Genome Resources | ||||
familial hypercholesterolemia | EPHX2* | Ephx2 | Alliance of Genome Resources | ||||
familial hypercholesterolemia | GHR* | Ghr | Alliance of Genome Resources | ||||
familial hyperlipidemia | ABCB1* | Abcb1a, Abcb1b | Alliance of Genome Resources | ||||
familial hyperlipidemia | ABCG8* | Abcg8 | Alliance of Genome Resources | ||||
familial hyperlipidemia | APOB* | Apob | Alliance of Genome Resources | ||||
familial hyperlipidemia | APOC2* | Apoc2, Apoc2l | Alliance of Genome Resources | ||||
familial hyperlipidemia | CCL2*, CCL13 | Ccl2, Ccl12 | Alliance of Genome Resources | ||||
familial hyperlipidemia | GNB3* | Gnb3 | Alliance of Genome Resources | ||||
familial hyperlipidemia | HSPA1B*, HSPA1A | Hspa1a, Hspa1b | Alliance of Genome Resources | ||||
familial hyperlipidemia | LPL* | Lpl | Alliance of Genome Resources | ||||
familial hypobetalipoproteinemia 1 | APOB* | Apob | Alliance of Genome Resources | ||||
familial hypobetalipoproteinemia 2 | ANGPTL3* | Angptl3 | Alliance of Genome Resources | ||||
familial lipase maturation factor 1 deficiency | LMF1* | Lmf1 | Alliance of Genome Resources | ||||
hyperalphalipoproteinemia 1 | CETP* | ||||||
hyperlipoproteinemia type III | APOC3* | Apoc3 | Alliance of Genome Resources | ||||
hyperlipoproteinemia type III | APOE* | Apoe | Alliance of Genome Resources | ||||
hyperlipoproteinemia type IV | APOA5* | Apoa5 | Alliance of Genome Resources | ||||
hyperlipoproteinemia type V | APOA5* | Apoa5 | Alliance of Genome Resources | ||||
hypobetalipoproteinemia | APOB* | Apob | Alliance of Genome Resources | ||||
hypobetalipoproteinemia | PCSK9* | Pcsk9 | Alliance of Genome Resources | ||||
hypolipoproteinemia | APOA1* | Apoa1 | Alliance of Genome Resources | ||||
hypolipoproteinemia | ABCA1* | Abca1 | Alliance of Genome Resources | ||||
lipid metabolism disorder | NPY5R* | Npy5r | Alliance of Genome Resources | ||||
lipid metabolism disorder | MVK* | Mvk | Alliance of Genome Resources | ||||
lipid metabolism disorder | CPT1A* | Cpt1a | Alliance of Genome Resources | ||||
lipid metabolism disorder | DHCR24* | Dhcr24 | Alliance of Genome Resources | ||||
lipid metabolism disorder | CPT2* | Cpt2 | Alliance of Genome Resources | ||||
lipid metabolism disorder | PPARA* | Ppara | Alliance of Genome Resources | ||||
lipoid proteinosis | ECM1* | Ecm1 | Alliance of Genome Resources | ||||
MEND syndrome | EBP* | Ebp | Alliance of Genome Resources | ||||
mitochondrial short-chain enoyl-CoA hydratase 1 deficiency | ECHS1* | Echs1 | Alliance of Genome Resources | ||||
mitochondrial trifunctional protein deficiency 1 | HADHA* | Hadha | Alliance of Genome Resources | ||||
mitochondrial trifunctional protein deficiency 2 | HADHB* | Hadhb | Alliance of Genome Resources | ||||
multiple congenital anomalies-hypotonia-seizures syndrome 1 | PIGN* | Pign | Alliance of Genome Resources | ||||
multiple congenital anomalies-hypotonia-seizures syndrome 2 | PIGA* | Piga | Alliance of Genome Resources | ||||
multiple congenital anomalies-hypotonia-seizures syndrome 3 | PIGT* | Pigt | Alliance of Genome Resources | ||||
multiple congenital anomalies-hypotonia-seizures syndrome 4 | PIGQ* | Pigq | Alliance of Genome Resources | ||||
primary hypoalphalipoproteinemia 1 | ABCA1* | Abca1 | Alliance of Genome Resources | ||||
primary hypoalphalipoproteinemia 2 | APOA1* | Apoa1 | Alliance of Genome Resources |
Transgenes and other genome features developed in mice to model this disease.
|
|||
Disease Term | Transgenes and Other Genome Features | Mouse Models | |
Tangier disease | Tg(CMV-EGFP,Rnu6-siAbca1)#Wcyy | 1 model |