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Symbol B4GALNT1 contributors: - updated : 13-06-2013
HGNC name beta-1,4-N-acetyl-galactosaminyl transferase 1
HGNC id 4117
8722; mouse lacked all complex gangliosides, exhibits a slight reduction in the neural conduction velocity from the tibial nerve to the somatosensory cortex
  • GM2/GD2 synthase knockout male mice are sterile and have progressive testicular atrophy with the presence of diffuse vacuoles in Sertoli cells and, despite almost normal testosterone levels per mg of testis, a severe reduction of serum testosterone
  • GM2/GD2 synthase knockout mice isplay decreased central myelination, axonal degeneration in both the central and peripheral nervous systems, demyelination in peripheral nerves, and have reduced MAG expression in the central nervous system
  • GM2/GD2 synthase knockout mice develop significant and progressive behavioral neuropathies, including deficits in reflexes, strength, coordination, and balance, progressive gait including reduced stride length, stride width, and increased hindpaw print length as well as a marked reduction in rearing
  • cerebellar granule neurons from Mice neonatal GM2/GD2 synthase knockout have impaired capacity for Ca2+ regulation, gradually degenerated in the presence of high K+ accompanied by progressive elevation of intracellular calcium and onset of apoptosis
  • decreased central myelination in dorsal spinal cord and increased numbers of unmyelinated fibers in GM2/GD2 synthase knockout mice
  • increased astrocyte/microglia proliferation, or alteration of lipid content in glycolipid-enriched membrane (raft) domains in B4galnt1&
  • 8722;/&
    8722; mice
  • expression of neuroplastin gene is significantly higher and neuroplastin protein levels of neuroplastin-55 isoform protein is increased in the hippocampus of B4galnt1 null mice
  • B4galnt1 null mice had relatively little neuroplastin immunoreactivity in the pyramidal layer of CA1 and CA3