mortality/aging
|
• normal numbers of hemizygotes atE16.5
• hemizygotes reduced from 26% to 16% by weaning
|
growth/size/body
|
• ventral wall closure defects with incomplete penetrance
|
kidney cyst
(
J:64330
)
|
• medullary cystic dysplasia
|
|
• males are 30% larger than controls
• females show intermediate growth properties
|
renal/urinary system
kidney cyst
(
J:64330
)
|
• medullary cystic dysplasia
|
|
• medullary cystic dysplasia
|
skeleton
|
• reduced conversion of macrophage precursors to osteoclasts
|
|
• bifurcated
|
|
• 45% of mice show defects in endochondral ossification
• persistence of hypertrophic chondrocytes at E16.5 when controls have replaced chondrocytes with trabecular bone
|
hematopoietic system
|
• reduced conversion of macrophage precursors to osteoclasts
|
immune system
|
• reduced conversion of macrophage precursors to osteoclasts
|
embryo
|
• small to moderate umbilical hernias
|
cardiovascular system
|
• seen in one P0 mutant mouse
|
|
• at E13.5 mutant embryos show a delay in the development of the coronary vascular plexus
• at E13.5, there are approximately five times as many intramyocardial (arterial) vessels in the mutant as in controls, whereas the number of subepicardial (venous) vessels tended to be less; loss of Gpc3 function causes a disproportionate increase in the number of coronary arteries relative to veins
|
|
• at PO, coronary artery fistulas are seen in 3 of 16 mutant animals; some Gpc3-deficient animals had a dilated left anterior descending coronary artery feeding a coronary artery fistula that coursed through the interventricular septum and drained into the right ventricle
|
|
• seen in one P0 mutant mouse; the pulmonic valve was ventral and leftward to the aortic valve, which also arose from the right ventricle
|
|
• at P0, two mutant animals had a common atrioventricular canal with leaflets of the common valve bridging the two ventricles
|
|
• at P0, two mutant animals had a common atrioventricular canal with leaflets of the common valve bridging the two ventricles
|
|
• at P0, some mutant hearts exhibit VSD (5/16 hearts; 4 perimembranous, 1 inlet)
|
cellular
|
• seen in one P0 mutant mouse
|
|
• reduced conversion of macrophage precursors to osteoclasts
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
Simpson-Golabi-Behmel syndrome type 1 | DOID:0060248 |
OMIM:312870 |
J:64330 |