Excel File Text File *Disease is associated/modeled with this Gene or a homolog. More...
      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 PCSK9* Pcsk9   Alliance of Genome Resources
hypobetalipoproteinemia APOB* Apob   Alliance of Genome Resources
hypolipoproteinemia ABCA1* Abca1   Alliance of Genome Resources
hypolipoproteinemia APOA1* Apoa1   Alliance of Genome Resources
lipid metabolism disorder PPARA* Ppara   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 DHCR24* Dhcr24   Alliance of Genome Resources
lipid metabolism disorder CPT2* Cpt2   Alliance of Genome Resources
lipid metabolism disorder CPT1A* Cpt1a   Alliance of Genome Resources
lipoid proteinosis ECM1* Ecm1   Alliance of Genome Resources
MEND syndrome EBP* Ebp   Alliance of Genome Resources
mitochondrial trifunctional protein deficiency HADHA* Hadha   Alliance of Genome Resources
mitochondrial trifunctional protein deficiency 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