Gene editing
Cep290rd16
Alias:
rd16
Basic Information
The mutation is a deletion of exons 35 to 39 of the gene. The expressed transcript contains an in-frame deletion of 897 bp, corresponding to amino acids 1599-1897 of the encoded protein, which overlaps with the region of human CEP290 critical for microtubule binding. The truncated protein is detectable in retinal extracts derived from homozygous mice. (J:108467, J:204004)
Basic Information
MGI ID
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Because of their genetic and physiological similarities with humans, mouse models are essential for understanding human illnesses. Advances in molecular biology and gene editing improve disease replication in mice, allowing researchers to get a better understanding of disease causes, identify biomarkers, and create treatments.
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#) :related diseases count
Phenotypes：
Show/Hide columns
| Phenotypes |
|---|
References
Disease models are key instruments in biomedical research, and their literature reports are critical to the advancement of research. These publications provide researchers with a comprehensive theoretical foundation by detailing the design procedures, application regions, and outcomes analysis of disease models.
Title
PMID
Journal
Year
IF
Comparison
BioGPT