User:Rockpocket/MGP/DSCC1

Model organisms
Model organisms have been used in the study of DSCC1 function. A conditional knockout mouse line, called Dscc1tm1a(KOMP)Wtsi was generated as part of the 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 phenotypic screen to determine the effects of deletion. Twenty four tests were carried out on mutant mice and four significant abnormalities were observed. Few homozygous mutant embryos were identified during gestation, and some displayed oedema, therefore less than expected survived until weaning. Those that did survive had increased chromosomal instability in a micronucleus test and numerous skeletal abnormalities by radiography.