Primary Identifier | MGI:1919595 | Organism | mouse, laboratory |
Chromosome | X | NCBI Gene Number | 72345 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable beta-catenin binding activity; beta-catenin destruction complex binding activity; and phosphatidylinositol-4,5-bisphosphate binding activity. Acts upstream of or within adipose tissue development; bone development; and mesenchymal cell differentiation involved in kidney development. Predicted to be located in nuclear body. Predicted to be active in plasma membrane. Is expressed in several structures, including central nervous system; embryo mesenchyme; epithelium; genitourinary system; and sensory organ. Used to study osteopathia striata with cranial sclerosis. Human ortholog(s) of this gene implicated in colorectal cancer and osteopathia striata with cranial sclerosis. Orthologous to human AMER1 (APC membrane recruitment protein 1). PHENOTYPE: Male mice hemizygous for a null mutation display neonatal lethality with cardiac overgrowth, bone overgrowth, bilateral or unilateral renal agenesis coupled with renal overgrowth, adipocyte and spleen hypoplasia, and altered mesenchymal progenitor cell fate specification. [provided by MGI curators] |