ASXL1

Putative Polycomb group protein ASXL1 is a is_associated_with::protein that in humans is encoded by the ASXL1 is_associated_with::gene.

Model organisms
is_associated_with::Model organisms have been used in the study of ASXL1 function. A conditional is_associated_with::knockout mouse line, called Asxl1tm1a(EUCOMM)Wtsi was generated as part of the is_associated_with::International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.

Male and female animals underwent a standardized is_associated_with::phenotypic screen to determine the effects of deletion. Twenty five tests were carried out on is_associated_with::mutant mice and four significant abnormalities were observed. Few is_associated_with::homozygous is_associated_with::mutant embryos were identified during gestation and those that were alive had craniofacial and eye defects, none survived until is_associated_with::weaning. The remaining tests were carried out on is_associated_with::heterozygous mutant adult mice; decreased vertebrae number and increased bone strength was observed in these animals.