Primary Identifier | MGI:1100514 | Organism | mouse, laboratory |
Chromosome | 12 | NCBI Gene Number | 18949 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable DNA binding activity. Predicted to be involved in RNA splicing and mRNA processing. Predicted to act upstream of or within cell-cell adhesion. Located in cytoplasm and nuclear speck. Is expressed in several structures, including central nervous system; eye; genitourinary system; gut; and hemolymphoid system gland. Orthologous to human PNN (pinin, desmosome associated protein). PHENOTYPE: Mice homozygous for a knock-out allele die prior to implantation. Mice homozygous for a hypomorphic allele show complete perinatal lethality, edema, axial skeletal abnormalities, cardiac outflow tract defects, cleft palate, and impaired development of the dorsal dermis and brown fat tissue. [provided by MGI curators] |