Primary Identifier | MGI:104564 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 12577 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable protein kinase inhibitor activity. Involved in negative regulation of phosphorylation. Acts upstream of or within several processes, including embryonic placenta morphogenesis; regulation of gene expression; and uterus development. Located in nucleus. Is expressed in several structures, including alimentary system; central nervous system; extraembryonic component; genitourinary system; and sensory organ. Used to study Beckwith-Wiedemann syndrome and pre-eclampsia. Human ortholog(s) of this gene implicated in Beckwith-Wiedemann syndrome; IMAGe syndrome; and hyperinsulinism. Orthologous to human CDKN1C (cyclin dependent kinase inhibitor 1C). PHENOTYPE: Homozygous mutants or heterozygotes with a mutant maternal allele have developmental defects including cleft palate, gastrointestinal defects and short limbs. Most mutants die at birth; survivors are growth retarded and have immature reproductive systems. [provided by MGI curators] |