Expression data from primary osteoblasts isolated from calvaria of Gnptab(c.3082insC) knock-in mice compared with osteoblasts isolated from wild-type littermates

ABSTRACT: Mucolipidosis type II (MLII) is a severe inherited multisystemic disorder caused by mutations in the GNPTAB gene. Skeletal abnormalities are a predominant feature of MLII. Here we investigate the gene expression in a knock-in mouse model for mucolipidosis type II, generated by the insertion of a cytosine in the murine Gnptab gene (c.3082insC) that is homologous to a homozygous mutation in an MLII patient. Since osteoblasts are critically involved in regulating bone development and remodeling, a genome-wide expression analysis was performed with RNA isolated from primary cultures of osteoblasts originating from MLII knock-in mice (KI) compared to RNA from wild-type (WT) osteoblasts to identify dysregulated genes involved in pathogenic mechanisms. Primary osteoblasts were isolated from calv

ORGANISM(S): Mus musculus

SUBMITTER: Thomas Streichert 

PROVIDER: E-GEOD-43854 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress