Construction of a mouse model of cblC type methylmalonic acidemia with W203X mutation based on the CRISPR/Cas9 technology / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
; (12): 824-829, 2019.
Article
in Chinese
| WPRIM (Western Pacific)
| ID: wpr-775099
Responsible library:
WPRO
ABSTRACT
OBJECTIVE@#To construct a W203X-mutant mouse model of cblC type methylmalonic acidemia based on the CRISPR/Cas9 technology.@*METHODS@#At first, BLAST was used to compare the conservative nature of the cblC gene and protein sequences in humans and mice, and then, the CRISPR/Cas9 technology was used for microinjection of mouse fertilized eggs to obtain heterozygous F1 mice. Hybridization was performed for these mice to obtain homozygous W203X-mutant mice. The blood level of the metabolite propionyl carnitine (C3) was measured for homozygous mutant mice, heterozygous littermates, and wild-type mice.@*RESULTS@#The gene and protein sequences of MMACHC, the pathogenic gene for cblC type methylmalonic acidemia, were highly conserved in humans and mice. The homozygous W203X-mutant mice were successfully obtained by the CRISPR/Cas9 technology, and there was a significant increase in C3 in these mice at 24 hours after birth (P<0.001).@*CONCLUSIONS@#A W203X-mutant mouse model of cblC type methylmalonic acidemia is successfully constructed by the CRISPR/Cas9 technology.
Full text:
Available
Database:
WPRIM (Western Pacific)
Main subject:
Carrier Proteins
/
CRISPR-Cas Systems
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Amino Acid Metabolism, Inborn Errors
/
Heterozygote
/
Mutation
Limits:
Animals
Language:
Chinese
Journal:
Chinese Journal of Contemporary Pediatrics
Year:
2019
Document type:
Article