| 21907 |
Q64104 |
NR2E1_MOUSE |
Nuclear receptor subfamily 2 group E member 1 (Nuclear receptor TLX) (Protein tailless homolog) (Tll) (mTll) |
DISRUPTION PHENOTYPE |
Mice show exhibit hyperaggressivity, decreased body fat and have ocular defects. Female mice lack maternal instincts. In developing brain, there are reduced areas of the ventricular zone and enlarged ventricles. Neuron progenitor cell divide more slowly. There is complete loss of visual acuity, with mice not being able to distinguish the cliff nor light and dark transition. There is a dramatic reduction in retina thickness and enhanced generation of S-cones with more differentiated neurons, fewer proliferation retinal progenitor cells (RPCs) and more cells undergoing apoptosis leading to progressive retinal dystrophy, optic nerve degradation and blindness. {ECO:0000269|PubMed:10706625, ECO:0000269|PubMed:11997145, ECO:0000269|PubMed:16702404, ECO:0000269|PubMed:17901127}. |