Phenotypic evaluation of Ttc37 knockout mouse as type Ⅰ tricho-hepato-enteric syndrome model
10.3969/j.issn.1672-8467.2024.02.016
- VernacularTitle:Ⅰ型毛-肝-肠综合征小鼠模型构建及表型分析
- Author:
Ming-Ya LI
1
;
Xue-Lin WANG
;
Ye WEI
;
Pei-Hong YANG
;
Lei SUN
Author Information
1. 复旦大学发育生物学研究所,生命科学学院 上海 200433;内蒙古大学生命科学学院 呼和浩特 010070
- Keywords:
mouse model;
tricho-hepato-enteric syndrome(THES);
TtcC37 gene
- From:
Fudan University Journal of Medical Sciences
2024;51(2):249-256
- CountryChina
- Language:Chinese
-
Abstract:
Objective To establish a mouse model of type Ⅰ tricho-hepato-enteric syndrome(THES)induced by Ttc37 deficiency.Methods Ttc37 flox strain was established by site-specifically inserted loxP sites into Ttc37 gene via CRISPR/CAS9 technology.Ubiquitously expressed CAG-Cre was introduced for all-tissue removal of Ttc37 in Ttc37flox/flox;CAG-Cre mice.The knock-out effect was confirmed by fluorescence quantitative PCR and Western blot.Phenotypic evaluations were conducted in 8-week-old mice including hematoxylin-eosin staining of skin,spleen,liver,bladder,and gastrointestinal tract(GI),serum enzyme activity assay of aspartate aminotransferase(AST)and alanine aminotransferase(ALT),measurement of serum hemoglobin level,and ELISA for IgG and IgM level upon antigen immunization.Results Similar to type Ⅰ THES patients,Ttc37flox/flox;CAG-Cre mice exhibited impaired development of hair shaft,epidermis,B cell and eyes,while liver,GI,bladder and serum hemoglobin level seemed normal under unstressed condition.Conclusion A novel mouse model of typeⅠ THES was constructed successfully,which was applicable for pathological study.
