| 11878 | O35085 | ARX_MOUSE | Homeobox protein ARX (Aristaless-related homeobox) | DISRUPTION PHENOTYPE | Hemizygous knockout males were born at 19.5 dpc and died within a half day (PubMed:12379852). Neonatal males have small brains, small olfactory bulbs, small testes, hypoplasia of the seminal vesicle and abnormally enlarged seminiferous tubules (PubMed:12379852). Abnormal morphology in each of the developing brain regions in which ARX is normally expressed (PubMed:12379852). Suppressed proliferation and nearly normal migration of neuroepithelial cells in the neocortex (PubMed:12379852). Aberrant formation of many nerve fiber tracts at 19.5 dpc (PubMed:12379852). Abnormal primary migration of GABAergic interneurons from the ganglionic eminence (PubMed:12379852). Abolished expression of wingless-related WNT8B and LIM homeobox protein LHX9 in the thalamic eminence at 12.5 dpc, and decreased expression of DLX1 in the ventral thalamus at 12.5 dpc (PubMed:12379852). Testes have a dysplastic interstitium, probably owing to a considerable decrease in cells containing an abundant cytoplasm as the interstitium is occupied predominantly by fibroblast-like cells (PubMed:12379852). Expression of Leydig cell marker HSD3B1 is severely diminished in the interstitial region of testes, suggesting that Leydig cell differentiation is blocked (PubMed:12379852). Expression of KDM5C is reduced at both mRNA and protein levels (PubMed:31691806). Increased expression of SYN1, SCN2A and some isoforms of BDNF (PubMed:31691806). {ECO:0000269|PubMed:12379852, ECO:0000269|PubMed:31691806}. |