Phenotypes Associated with This Genotype

Genotype
MGI:3849590

• Allelic Composition: Gpc3^tm1Snd/Y
• Genetic Background: involves: 129X1/SvJ * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

perinatal lethality, incomplete penetrance ( J:64330 )

♂ • normal numbers of hemizygotes atE16.5

♂ • hemizygotes reduced from 26% to 16% by weaning

growth/size/body

abnormal ventral body wall morphology ( J:64330 )

♂ • ventral wall closure defects with incomplete penetrance

kidney cyst ( J:64330 )

♂ • medullary cystic dysplasia

increased body size ( J:64330 )

♂ • males are 30% larger than controls

♂ • females show intermediate growth properties

renal/urinary system

kidney cyst ( J:64330 )

♂ • medullary cystic dysplasia

abnormal kidney medulla morphology ( J:64330 )

♂ • medullary cystic dysplasia

skeleton

abnormal osteoclast differentiation ( J:104555 )

♂ • reduced conversion of macrophage precursors to osteoclasts

split xiphoid process ( J:64330 )

♂ • bifurcated

abnormal endochondral bone ossification ( J:104555 )

♂ • 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

abnormal osteoclast differentiation ( J:104555 )

♂ • reduced conversion of macrophage precursors to osteoclasts

immune system

abnormal osteoclast differentiation ( J:104555 )

♂ • reduced conversion of macrophage precursors to osteoclasts

embryo

umbilical hernia ( J:64330 )

♂ • small to moderate umbilical hernias

cardiovascular system

patent ductus arteriosus ( J:154375 )

♂ • seen in one P0 mutant mouse

abnormal coronary vessel morphology ( J:154375 )

♂ • 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

coronary fistula ( J:154375 )

♂ • 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

double outlet right ventricle ( J:154375 )

♂ • seen in one P0 mutant mouse; the pulmonic valve was ventral and leftward to the aortic valve, which also arose from the right ventricle

common atrioventricular valve ( J:154375 )

♂ • at P0, two mutant animals had a common atrioventricular canal with leaflets of the common valve bridging the two ventricles

complete atrioventricular septal defect ( J:154375 )

♂ • at P0, two mutant animals had a common atrioventricular canal with leaflets of the common valve bridging the two ventricles

ventricular septal defect ( J:154375 )

♂ • at P0, some mutant hearts exhibit VSD (5/16 hearts; 4 perimembranous, 1 inlet)

perimembraneous ventricular septal defect ( J:154375 )

♂

inlet ventricular septal defect ( J:154375 )

♂

cellular

patent ductus arteriosus ( J:154375 )

♂ • seen in one P0 mutant mouse

abnormal osteoclast differentiation ( J:104555 )

♂ • 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