Primary Identifier | MGI:88557 | Organism | mouse, laboratory |
Chromosome | 16 | NCBI Gene Number | 13026 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables choline-phosphate cytidylyltransferase activity. Involved in B cell proliferation; CDP-choline pathway; and isotype switching. Located in endoplasmic reticulum membrane and glycogen granule. Is expressed in several structures, including alimentary system; central nervous system; ear; genitourinary system; and integumental system. Human ortholog(s) of this gene implicated in congenital generalized lipodystrophy and spondylometaphyseal dysplasia with cone-rod dystrophy. Orthologous to human PCYT1A (phosphate cytidylyltransferase 1A, choline). PHENOTYPE: Embryos homozygous for a targeted null mutation fail to form blastocysts, do not develop past E3.5, and fail to implant. [provided by MGI curators] |