Primary Identifier | MGI:103262 | Organism | mouse, laboratory |
Chromosome | 9 | NCBI Gene Number | 22601 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; proline-rich region binding activity; and transcription coactivator activity. Involved in several processes, including cardiac muscle tissue regeneration; interleukin-6-mediated signaling pathway; and positive regulation of Notch signaling pathway. Acts upstream of or within several processes, including regulation of epithelial cell differentiation; regulation of epithelial cell proliferation; and tube morphogenesis. Located in several cellular components, including cell-cell junction; cytosol; and female germ cell nucleus. Part of TEAD-YAP complex. Is expressed in several structures, including brain; early conceptus; eye; jaw; and ovary. Used to study cone dystrophy. Human ortholog(s) of this gene implicated in uveal coloboma-cleft lip and palate-intellectual disability. Orthologous to human YAP1 (Yes1 associated transcriptional regulator). PHENOTYPE: Embryos homozygous for a null mutation of this gene die between embryonic days E9.5 and E10.5 due to yolk sac avasculogenesis and failure of attachment between the allantois and the chorion. Heterozygous mice are viable, and fertile but exhibit age-dependent cone photoreceptor degeneration and retinal abnormalities. [provided by MGI curators] |