| 268396 | A2AAY5 | SPD2B_MOUSE | SH3 and PX domain-containing protein 2B (Factor for adipocyte differentiation 49) (Tyrosine kinase substrate with four SH3 domains) | DISRUPTION PHENOTYPE | Exhibit skeletal, cardiac and eye phenotypes. Mice have glaucoma and suffer growth retardation as well as craniofacial defects. Skeletons show marked kyphosis, poorly aligned teeth, anomalies in the iliac crest, and a prominent xiphisternum. Mice show loss of adipose tissue as well as cardiac deficiencies, such as dysmorphic ventricular chambers, thin mitral valves and immature and disarrayed trabeculae with frequent apical indentation. Mice show loss of ROS formation. {ECO:0000269|PubMed:19755710, ECO:0000269|PubMed:20137777}. |