A 3kb genomic region including exon 2 was replaced with a neo-loxP-hprt cassette via homologous recombination, resulting in deletion of 100 N-terminal amino acids in the encoded protein and a frameshift inactivating all putative protein isoforms. Homozygous mutant animals were identified by Southern blot and PCR genotype analysis. (J:50811)
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.