Primary Identifier | MGI:102722 | Organism | mouse, laboratory |
Chromosome | 10 | NCBI Gene Number | 18541 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0) Predicted to enable calmodulin binding activity and molecular adaptor activity. Acts upstream of or within several processes, including embryonic organ development; mitotic spindle organization; and nervous system development. Located in several cellular components, including cis-Golgi network; intercellular bridge; and microtubule organizing center. Is expressed in several structures, including central nervous system; early conceptus; genitourinary system; respiratory system; and sensory organ. Used to study microcephalic osteodysplastic primordial dwarfism type II. Human ortholog(s) of this gene implicated in microcephalic osteodysplastic primordial dwarfism type II. Orthologous to human PCNT (pericentrin). PHENOTYPE: Mice homozygous for a gene trapped allele display mitotic spindle misorientation, microcephaly, craniofacial developmental anomalies, such as cleft palate and eye defects, variable structural kidney and cardiovascular defects, and altered hemodynamics leading to heart failure and prenatal lethality. [provided by MGI curators] |