Mouse Genome Informatics
ht1
    Gpc3tm1Snd/Gpc3+
involves: 129X1/SvJ * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
growth/size
• ventral wall closure defects with incomplete penetrance (J:64330)
• usually results in small to moderate umbilical hernias (J:64330)
• males are 30% larger than controls (J:64330)
• females show intermediate growth properties (J:64330)

renal/urinary system
• medullary cystic dysplasia (J:64330)
• medullary cystic dysplasia (J:64330)

skeleton
• bifurcated (J:64330)

Mouse Models of Human Disease
OMIM IDRef(s)
Simpson-Golabi-Behmel Syndrome, Type 1; SGBS1 312870 J:64330


Mouse Genome Informatics
cx2
    Bmp4tm1Blh/Bmp4+
Gpc3tm1Snd/Y

involves: 129S2/SvPas * 129X1/SvJ * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
limbs/digits/tail
• bifurcated 5th digits frequently seen on forelimbs (J:64330)
• ectopic triphalangeal duplications branching from the 5th metatarsal (J:64330)
• 66% show show similar branched bifurcation of the right 5th digit of the hind limb (J:64330)

skeleton
• dual ossification centers along the length of the sternum (J:64330)
• deformed (J:64330)
(J:64330)


Mouse Genome Informatics
ot3
    Gpc3tm1Snd/Y
involves: 129X1/SvJ * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• normal numbers of hemizygotes atE16.5 (J:64330)
• hemizygotes reduced from 26% to 16% by weaning (J:64330)

growth/size
• ventral wall closure defects with incomplete penetrance (J:64330)
• males are 30% larger than controls (J:64330)
• females show intermediate growth properties (J:64330)

renal/urinary system
• medullary cystic dysplasia (J:64330)
• medullary cystic dysplasia (J:64330)

skeleton
• reduced conversion of macrophage precursors to osteoclasts (J:104555)
• bifurcated (J:64330)
• 45% of mice show defects in endochondral ossification (J:104555)
• persistence of hypertrophic chondrocytes at E16.5 when controls have replaced chondrocytes with trabecular bone (J:104555)

hematopoietic system
• reduced conversion of macrophage precursors to osteoclasts (J:104555)

immune system
• reduced conversion of macrophage precursors to osteoclasts (J:104555)

embryogenesis
• small to moderate umbilical hernias (J:64330)

cardiovascular system
• seen in one P0 mutant mouse (J:154375)
• at E13.5 mutant embryos show a delay in the development of the coronary vascular plexus (J:154375)
• 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 (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 (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 (J:154375)
• at P0, two mutant animals had a common atrioventricular canal with leaflets of the common valve bridging the two ventricles (J:154375)
• at P0, two mutant animals had a common atrioventricular canal with leaflets of the common valve bridging the two ventricles (J:154375)
• at P0, some mutant hearts exhibit VSD (5/16 hearts; 4 perimembranous, 1 inlet) (J:154375)

cellular
• reduced conversion of macrophage precursors to osteoclasts (J:104555)

Mouse Models of Human Disease
OMIM IDRef(s)
Simpson-Golabi-Behmel Syndrome, Type 1; SGBS1 312870 J:64330