Ontology highlight
ABSTRACT:
SUBMITTER: Migdalska AM
PROVIDER: S-EPMC3262805 | biostudies-literature | 2012
REPOSITORIES: biostudies-literature
Migdalska Anna M AM van der Weyden Louise L Ismail Ozama O White Jacqueline K JK Sánchez-Andrade Gabriela G Logan Darren W DW Arends Mark J MJ Adams David J DJ
PloS one 20120120 1
Haploinsufficiency of part of human chromosome 21 results in a rare condition known as Monosomy 21. This disease displays a variety of clinical phenotypes, including intellectual disability, craniofacial dysmorphology, skeletal and cardiac abnormalities, and respiratory complications. To search for dosage-sensitive genes involved in this disorder, we used chromosome engineering to generate a mouse model carrying a deletion of the Lipi-Usp25 interval, syntenic with 21q11.2-q21.1 in humans. Haploi ...[more]