Other Rare Disease Models

Currently over 8,000 rare diseases have been identified, with the number continues growing. Most of rare diseases have complex pathogenic mechanisms and involve multiple organs, including rare skin diseases (psoriasis and scleroderma), rare kidney diseases (Fabry disease and inherited hypomagnesemia), rare heart diseases (cardiac amyloidosis, hypertrophic cardiomyopathy, and dilated cardiomyopathy), and rare skeletal diseases (brittle bone disease, Marfan syndrome, and osteopetrosis). Cyagen has developed a range of gene knockout, knock-in, and point mutation models for these types of diseases. We also offer customization and collaboration options to meet the specific needs of researchers.


Disease Name Target Genes Targeting Methods Ordering
Achondroplasis, ACH Fgfr3 Mu Order Now
Adrenoleukodystrophy, ALD Abcd1 KO Order Now
Aicardi-Goutieres syndrome, AGS Adar KO Order Now
Alport's syndrome, AS Col4a5 Mu Order Now
Alström syndrome Alms1 Mu Order Now
Autosomal dominant nonsyndromic deafness Tmc1 Mu Order Now
Chronic granulomatous disease, CGD Cybb KO Order Now
Congenital nephrogenic dia-betesinsipidus, CNDI Avpr2 Mu Order Now
Dilated cardiomyopathy, DCM Bag3 Mu Order Now
Epidermolysis bullosa, EB Krt14 Mu Order Now
Col7a1 Humanization(WT, Mu) Order Now
Familial mediterranean fever, FMF Mefv KI Order Now
Fragile X syndrome, FXS Fmr1 KO Order Now
Hereditary multi-infarct dementia, hMID Notch3 Mu Order Now
Hereditary spastic paraplegia, HSP Spast TG Order Now
Hutchinson-Gilford progeria syndrome, HGPS Lmna Mu Order Now
Zmpste24 KO Order Now
Hypertrophic cardiomyopathy, HCM Myh7 Mu Order Now
Hyperuricemia Uox KO Order Now
Hypophosphatasia, HPP Alpl KO Order Now
Hypophosphatemic rickets Dmp1 KO Order Now
IgG4-related disease, IgG4-RD Lat Mu Order Now
Kallmann syndrome, KS Sox10 KO Order Now
Laron syndrome Ghr KO Order Now
Marfan syndrome Fbn1 Mu Order Now
Melanoma Braf CKO Order Now
Mucopolysaccharide diseases, MPS Ids KO Order Now
Idua KO Order Now
Nephrotic syndrome, NS Nphs2 Mu Order Now
Noonan syndrome, NS Raf1 Mu Order Now
Osteogenesis imperfecta, OI Bmp1 CKO Order Now
Prader-Willi syndrome, PWS Snrpn KO Order Now
Primary carnitine deficiency, PCD Slc22a5 Mu Order Now
PRKAG2 cardiac syndrome Prkag2 Mu Order Now
Severe combined immunodificiency, SCID Il2rg KO Order Now
Simple 46, XY gonadal dysgenesis syndrome Nr5a1 CKO Order Now
Transthyretin amyloidosis, ATTR Ttr Humanization(WT, Mu) Order Now
Wiskott-Aldrich syndrome, WAS Wasp KO Order Now