Primary Identifier | MGI:2442354 | Organism | mouse, laboratory |
Chromosome | 8 | NCBI Gene Number | 234356 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity. Involved in chondroitin sulfate biosynthetic process. Acts upstream of or within chondroitin sulfate metabolic process; extracellular matrix organization; and skeletal system development. Is active in Golgi apparatus. Is expressed in several structures, including alimentary system; cartilage; limb; nervous system; and sensory organ. Orthologous to human CSGALNACT1 (chondroitin sulfate N-acetylgalactosaminyltransferase 1). PHENOTYPE: Mice homozygous for a null allele exhibit decreased body weight and length, short limbs, abnormal cartilage development, impaired intramembranous ossification in the skull, round head, short face, abnormal calvaria, eye defects, cleft lip and palate, malocclusion, scoliosis, joint laxity, and skin hyperextension. [provided by MGI curators] |