ヒト化モデルは、人間の生理学的および病理学的な特性を忠実に再現できる優れたツールであり、従来のトランスジェニック（Tg）動物モデルを凌駕しています。このため、ヒトの疾患を研究したり、治療法の安全性や効果を評価する際に、ヒト化モデルは最も適したモデルとされています。ヒトの生物学との高い整合性により、薬物反応や疾患メカニズムの予測が一層正確になり、臨床前研究から臨床応用への移行をスムーズに進めることができます。
一般的なヒト化モデル（トランスジェニック（Tg）マウス、コーディング配列（CDS）マウス、単一エクソンヒト化マウスなど）はよく使われていますが、完全に人間の遺伝子をマウスのゲノムに統合することはできていません。これらのモデルには、遺伝子のランダム挿入、複雑な遺伝背景、不十分のヒト化など、いくつかの問題があります。
疾患メカニズムや薬剤開発の理解を進めるためには、全長のゲノムDNAヒト化マウスが必要です。全長のゲノムDNAヒト化マウスは、人間の遺伝子発現パターンや調節、機能をマウスで忠実に再現できます。しかし、全長のゲノムDNAを置き換えることには技術的な課題があり、大きな外来遺伝子配列を導入すると、内因性遺伝子の発現や調節に影響を与える可能性があります。
これらのニーズに応えるため、CyagenはHUGO-GT™（遺伝子治療用ヒト化同源遺伝子）プログラムを導入しました。当社は独自のTurboKnockout-Pro技術を使用し、ターゲットとなるマウス内因性遺伝子をその場で置換することで、より広範な介入ターゲットを持つ全長ゲノム配列ヒト化マウスモデルを作製します。
当社のHUGO-GT™マウスは、高効率な大規模フラグメントベクターフュージョン技術を活用しており、カスタムターゲット変異導入のための多用途なテンプレートとして機能します。当社はこの方法により、実際の生物学的メカニズムに密接に関連した臨床的に有用なヒト化マウスモデルを提供することができます。
さらに、当社はマウスモデルの提供だけでなく、眼科、神経科学、腫瘍免疫など様々な分野で契約研究機関（CRO）サービスも提供しています。私たちは遺伝性疾患の研究を支援し、遺伝子治療薬の開発を促進すること目指しています。
| 製品番号 | 製品 | 系統背景 | 適用場合 |
|---|---|---|---|
| C001396 | B6J-hRHO | C57BL/6JCya | Retinitis Pigmentosa (RP), Congenital Stationary Night Blindness (CSNB), and other retinal diseases. |
| C001410 | B6-htau | C57BL/6JCya | Frontotemporal Dementia (FTD), Alzheimer's Disease (AD), and other neurodegenerative diseases. |
| C001418 | B6-hTARDBP | C57BL/6JCya | Amyotrophic Lateral Sclerosis (ALS), Frontotemporal Dementia (FTD), and other neurodegenerative diseases. |
| C001427 | B6-hSNCA | C57BL/6NCya | Parkinson's Disease (PD). |
| C001437 | B6-hIGHMBP2 | C57BL/6NCya | Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1) and Charcot-Marie-Tooth Disease Type 2S (CMT2S). |
| C001495 | B6-hRHO-P23H | C57BL/6JCya | Retinitis pigmentosa (RP), congenital stationary night blindness (CSNB), and other retinal diseases research |
| C001504 | B6-hSMN2(SMA) | C57BL/6NCya | Spinal muscular atrophy (SMA) |
| C001568 | B6-hMECP2 | C57BL/6NCya | Rett Syndrome (RTT) |
| I001124 | B6-hLMNA | C57BL/6NCya | Hutchinson-Gilford Progeria Syndrome (HGPS) |
| C001398 | B6-hATXN3 | C57BL/6NCya | Spinocerebellar Ataxia Type 3 (SCA3) |
| C001512 | B6-hTTR | C57BL/6NCya | Transthyretin Amyloidosis (ATTR) |
| I001131 | B6-hSCN2A | C57BL/6NCya | Epilepsy |
| I001132 | B6-hCFTR | C57BL/6NCya | Cystic Fibrosis (CF) |
| C001525 | H11-Alb-hTTR*V50M | C57BL/6NCya | Transthyretin Amyloidosis (ATTR) |
| I001130 | B6-hATP7B | C57BL/6NCya | Hepatolenticular Degeneration (HLD) |
| IR1019 | SD-hGFAP Rat | Sprague-Dawley | Alexander disease (AxD), traumatic brain injury |
| C001533 | B6-hINHBE | C57BL/6NCya | Obesity, metabolic disorders associated with improper fat distribution and storage |
| C001538 | B6-hCOL7A1*c.6527dupC | C57BL/6NCya | Dystrophic Epidermolysis Bullosa (DEB) |
| C001428 | B6-hCOL7A1 | C57BL/6NCya | Epidermolysis Bullosa (EB) |
| C001546 | B6-hTGFBI | C57BL/6JCya | Corneal Dystrophy (CD) |
| C001551 | B6-hABCA4 | C57BL/6JCya | Stargardt Disease (STGD) |
| C001554 | B6-hUSH2A(E10-15) | C57BL/6JCya | Usher Syndrome (USH) |
| C001555 | B6-hVEGFA | C57BL/6JCya | Age-related Macular Degeneration (AMD); Diabetic Retinopathy (DR); Corneal Neovascularization; Mechanisms of Tumorigenesis and Development, and Development of Antitumor Drugs. |
| I001191 | B6-hFUS | C57BL/6JCya | Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Lobar Degeneration/Dementia (FTLD) |
| I001181 | B6-htau*P301L | C57BL/6JCya | Frontotemporal Dementia (FTD), Alzheimer's Disease (AD), and other neurodegenerative diseases. |
| I001182 | B6-htau*P301S | C57BL/6JCya | Frontotemporal Dementia (FTD), Alzheimer's Disease (AD), and other neurodegenerative diseases. |
| I001203 | B6-hELP1 | C57BL/6NCya | Familial Dysautonomia (FD) |
| I001179 | B6-hPCSK9 | C57BL/6NCya | Research on metabolic diseases such as hypercholesterolemia, atherosclerosis, and coronary heart disease; neurodegenerative diseases such as stroke and Alzheimer's disease; and tumor immunotherapy and autoimmune disease treatment. |
| I001217 | B6-hCEP290 | C57BL/6JCya | Leber Congenital Amaurosis (LCA) |
| I001218 | B6-hC5 | C57BL/6JCya | Age-related Macular Degeneration (AMD) |
| I001133 | B6-hDMD (E49-53) | C57BL/6NCya | Duchenne Muscular Dystrophy (DMD) |
| I001204 | B6-hDMD(E44-45) | C57BL/6NCya | Duchenne Muscular Dystrophy (DMD) |
| I001208 | B6-hDMD(E44-45)*Del E44 | C57BL/6NCya | Duchenne Muscular Dystrophy (DMD) |
| I001210 | B6-hABCA4*c.5461-10T>C | C57BL/6JCya | Stargardt disease (STGD); Cone-Rod Dystrophy (CRD); Retinitis Pigmentosa (RP) |
| I001195 | DBA/1-hTNF | DBA/1 | Research on rheumatoid arthritis (RA); studies on the TNF-α signaling pathway; research on the pathogenesis and treatment of other TNF-α-related diseases |
| C001569 | B6-hMECP2*T158M | C57BL/6NCya | Rett Syndrome (RTT) |
| I001216 | B6-hSCN9A | C57BL/6NCya | Research on erythromelalgia, Dravet syndrome, small fiber neuropathy, and congenital insensitivity to pain; research on the pathogenesis of other neurological diseases and analgesic drugs. |
| I001221 | B6-htau/hGLP-1R | C57BL/6Cya | Research on neurodegenerative diseases such as frontotemporal dementia (FTD) and Alzheimer's disease (AD); research on metabolic diseases such as obesity and type 2 diabetes; evaluation of the potential efficacy of GLP-1 receptor agonists (GLP-1RA) in Alzheimer's disease (AD). |
| I001224 | B6-hDMD(E8-30) | C57BL/6NCya | Duchenne Muscular Dystrophy (DMD) |
| I001226 | B6-hCFTR*F508del | C57BL/6NCya | Cystic Fibrosis (CF) |
| I001135 | B6-hC3 | C57BL/6JCya | Atypical Hemolytic Uremic Syndrome (aHUS) and Age-related Macular Degeneration (AMD) |
| C001586 | B6-hXDH | C57BL/6NCya | Hyperuricemia and gout |
| C001597 | B6-hTFRC/hDMD(E44-45) | C57BL/6NCya | Duchenne muscular dystrophy (DMD) and drug delivery across the blood-brain barrier (BBB) |
| C001595 | B6-hTFRC/hDMD(E49-53) | C57BL/6NCya | Duchenne muscular dystrophy (DMD) and drug delivery across the blood-brain barrier (BBB) |
| C001596 | B6-hTFRC/hDMD(E8-30) | C57BL/6NCya | Duchenne muscular dystrophy (DMD) and drug delivery across the blood-brain barrier (BBB) |
| C001608 | B6-hC3/hTFRC(CDS) | C57BL/6JCya;C57BL/6NCya | Atypical Hemolytic Uremic Syndrome (aHUS), Age-related Macular Degeneration (AMD), and drug delivery across the blood-brain barrier (BBB) |
| C001610 | B6-hATP7B*H1069Q | C57BL/6NCya | Hepatolenticular Degeneration (HLD) |
| C001613 | B6-hGPR75 (1) | C57BL/6JCya | Research on the pathological mechanisms and therapeutic approaches of obesity, metabolic syndrome, cardiovascular disease, and cancer |
| C001614 | B6-hGPR75 (2) | C57BL/6JCya | Research on the pathological mechanisms and therapeutic approaches of obesity, metabolic syndrome, cardiovascular disease, and cancer |
| タイプ | 疾患 | ターゲット遺伝子 | ターゲットタイプ |
|---|---|---|---|
| Ophthalmology | Leber's congenital amaurosis 10 | CEP290 | Humanization (WT, Mut) |
| Age-Related Macular Degeneration (AMD) | VEGFA | Humanization | |
| ABCA4 | Humanization (WT, Mut) | ||
| Neurology | Amyotrophic lateral sclerosis (ALS) | SOD1 | Humanization |
| FUS | Humanization (WT, Mut) | ||
| Familial Dysautonomia (FD) | ELP1 | Humanization (WT, Mut) | |
| Myology/Muscle | Duchenne Muscular Dystrophy (DMD) | DMD | Humanization (WT, Mut, KO) |
| Spinal Muscular Atrophy (SMA) | SMN1 | Humanization | |
| Metabolism | Atherosclerosis (AS) | APOE2 | Humanization |
| APOE3 | Humanization | ||
| APOE4 | Humanization | ||
| Hematology/Blood | Hemophilia A (HA) | F8 | Humanization (WT, Mut) |