Approximately 35 % of the mouse genes are indispensable for life, thus, global knock-out (KO) of those genes may result in embryonic or early postnatal lethality due to developmental abnormalities. Several KO mouse lines are valuable human disease models, but viable homozygous mutant mice are frequently required to mirror most symptoms of a human disease. The site-specific gene editing systems, the transcription activator-like effector nucleases (TALENs), Zinc-finger nucleases (ZFNs) and the clustered regularly interspaced short palindrome repeat-associated Cas9 nuclease (CRISPR/Cas9) made the generation of KO mice more efficient than before, but the homozygous lethality is still an undesired side-effect in case of many genes. The literature search was conducted using PubMed and Web of Science databases until June 30th, 2020. The following terms were combined to find relevant studies: "lethality", "mice", "knock-out", "deficient", "embryonic", "perinatal", "rescue". Additional manual search was also performed to find the related human diseases in the Online Mendelian Inheritance in Man (OMIM) database and to check the citations of the selected studies for rescuing methods. In this review, the possible solutions for rescuing human disease-relevant homozygous KO mice lethal phenotypes were summarized.
- MeSH
- CRISPR-Cas systémy genetika MeSH
- editace genu metody MeSH
- fenotyp MeSH
- myši knockoutované MeSH
- myši MeSH
- nukleasy s motivem zinkových prstů genetika MeSH
- TALENs genetika MeSH
- ztráta embrya genetika prevence a kontrola MeSH
- zvířata MeSH
- Check Tag
- myši MeSH
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
- MeSH
- aneuploidie MeSH
- asistovaná reprodukce MeSH
- chromozomální aberace embryologie MeSH
- ektogeneze MeSH
- embryonální vývoj * genetika MeSH
- genetické testování využití MeSH
- lidé MeSH
- lidské chromozomy genetika MeSH
- mutace * genetika MeSH
- párování chromozomů MeSH
- preimplantační diagnóza metody MeSH
- přenos embrya MeSH
- ztráta embrya genetika MeSH
- Check Tag
- lidé MeSH
Data on the frequency of aneuploidy in farm animals are lacking and there is the need for a reliable technique which is capable of detecting all chromosomes simultaneously in a single cell. With the employment of comparative genomic hybridization coupled with the whole genome amplification technique, this study brings new information regarding the aneuploidy of individual chromosomes in pigs. Focus is directed on in vivo porcine blastocysts and late morulas, 4.7% of which were found to carry chromosomal abnormality. Further, ploidy abnormalities were examined using FISH in a sample of porcine embryos. True polyploidy was relatively rare (1.6%), whilst mixoploidy was presented in 46.8% of embryos, however it was restricted to only a small number of cells per embryo. The combined data indicates that aneuploidy is not a prevalent cause of embryo mortality in pigs.
- MeSH
- aneuploidie MeSH
- blastocysta cytologie metabolismus fyziologie MeSH
- embryo savčí MeSH
- gestační stáří MeSH
- nemoci prasat diagnóza embryologie genetika MeSH
- oocyty cytologie metabolismus fyziologie MeSH
- prasata genetika MeSH
- srovnávací genomová hybridizace metody veterinární MeSH
- těhotenství MeSH
- ztráta embrya diagnóza genetika MeSH
- zvířata MeSH
- Check Tag
- mužské pohlaví MeSH
- těhotenství MeSH
- ženské pohlaví MeSH
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- hodnotící studie MeSH
- práce podpořená grantem MeSH