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 7.1.0) Predicted to enable protein kinase inhibitor activity. 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] |