Primary Identifier | MGI:2683537 | Organism | mouse, laboratory |
Chromosome | 5 | NCBI Gene Number | 231225 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Acts upstream of or within embryonic skeletal system development. Predicted to be located in centrosome; cytosol; and nucleoplasm. Predicted to be active in ciliary basal body and endoplasmic reticulum membrane. Is expressed in several structures, including central nervous system; genitourinary system; liver; lung; and retina layer. Orthologous to human TAPT1 (transmembrane anterior posterior transformation 1). PHENOTYPE: Mice homozygous for an ENU mutation causing a truncation exhibit vertebral trasnformations and defects in rib attachment and the xiphoid process. Mice homozygous for a transgenic gene disruption exhibit cleft palate and possible anemia. [provided by MGI curators] |