MGI:1354951Homozygous inactivation of this gene causes a block in sialic acid biosynthesis and early embryonic lethality. Mice expressing the p.V572L mutation show features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy. Homozygosity for the p.P735R mutation affects angiogenesis, causing embryonic brain hemorrhages, and is embryonic lethal.