智鼠故事 
B6-hMECP2*T158M
HUGO-GT®全基因组人源化模型
* 使用本品系发表的文献需注明：B6-hMECP2*T158M mice (Catalog C001569) were purchased from Cyagen.
交付类型
周龄
性别
基因型
数量
只
品系描述
B6-hMECP2*T158M 小鼠是通过将小鼠内源性 Mecp2 基因替换为携带 T158M 突变的人类 MECP2 基因所构建的人源化疾病模型，可用于雷特综合征（RTT）的研究。该突变是 MECP2 中最常见的人类 RTT 相关错义突变，研究表明，携带 T158M 突变的小鼠能再现人类 RTT 的许多临床特征。
相关疾病：
Rett Syndrome
Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Autism X-Linked 3
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Non-Syndromic X-Linked Intellectual Disability
Syndromic X-Linked Intellectual Disability Lubs Type
Bruxism
Stereotypic Movement Disorder
Angelman Syndrome
Attention Deficit-Hyperactivity Disorder
Nervous System Disease
Congenital Nervous System Abnormality
Laryngomalacia
Sick Sinus Syndrome
Focal Epilepsy
Epilepsy
Microcephaly
Dystonia
Autism Spectrum Disorder
Systemic Lupus Erythematosus
应用领域
雷特综合征（RTT）致病机制和治疗药物的临床前评价等
