智鼠故事 
B6-hCOL7A1*c.6527dupC
复苏/繁育服务
产品名称：
B6-hCOL7A1*c.6527dupC
产品编号：
C001538
品系背景：
C57BL/6NCya
* 使用本品系发表的文献需注明：B6-hCOL7A1*c.6527dupC mice (Catalog C001538) were purchased from Cyagen.
交付类型
周龄
性别
基因型
数量
只
品系描述
本模型是通过在小鼠Col7a1人源化模型（产品编号：C001428）基础上引入COL7A1基因在人类疾病中常见复发性突变（c.6527dupC）所构建的疾病模型，该品系纯合子会出现与人类营养不良性大疱性表皮松解症（DEB）相似的疾病表型，并在出生后10天内死亡。
相关疾病：
Epidermolysis Bullosa Pruriginosa
Transient Bullous Dermolysis of the Newborn
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Nail Disorder, Nonsyndromic Congenital, 8
Epidermolysis Bullosa Dystrophica, Pretibial
Epidermolysis Bullosa Dystrophica, Autosomal Dominant
Epidermolysis Bullosa with Congenital Localized Absence of Skin and Deformity of Nails
Autosomal Dominant Generalized Dystrophic Epidermolysis Bullosa
Epidermolysis Bullosa Dystrophica
Recessive Dystrophic Epidermolysis Bullosa
Hyperpigmentation of the Skin
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Localized Dystrophic Epidermolysis Bullosa, Nails Only
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Skin Disease
Nail Disorder, Nonsyndromic Congenital, 4
Beckwith-Wiedemann Syndrome
Microcephaly
Thyroid Gland Disease
Epidermolytic Hyperkeratosis
Epidermolytic Hyperkeratosis 1
Ichthyosis
Nevus, Epidermal
Hepatoblastoma
应用领域
大疱性表皮松解症（Epidermolysis bullosa，EB）
