Phenotypes associated with this allele
Allelic
Composition |
Gpc3tm1Snd/Gpc3+
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Genetic
Background |
involves: 129X1/SvJ * C57BL/6 |
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gpc3tm1Snd mutation
(0 available);
any
Gpc3 mutation
(17 available)
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growth/size/body
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• ventral wall closure defects with incomplete penetrance
• usually results in small to moderate umbilical hernias
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• medullary cystic dysplasia
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• males are 30% larger than controls
• females show intermediate growth properties
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renal/urinary system
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• medullary cystic dysplasia
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• medullary cystic dysplasia
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skeleton
Allelic
Composition |
Bmp4tm1Blh/Bmp4+
Gpc3tm1Snd/Y
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Genetic
Background |
involves: 129S2/SvPas * 129X1/SvJ * C57BL/6 |
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp4tm1Blh mutation
(2 available);
any
Bmp4 mutation
(21 available)
Gpc3tm1Snd mutation
(0 available);
any
Gpc3 mutation
(17 available)
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limbs/digits/tail
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• bifurcated 5th digits frequently seen on forelimbs
• ectopic triphalangeal duplications branching from the 5th metatarsal
• 66% show show similar branched bifurcation of the right 5th digit of the hind limb
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skeleton
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• dual ossification centers along the length of the sternum
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Allelic
Composition |
Gpc3tm1Snd/Y
|
|
Genetic
Background |
involves: 129X1/SvJ * C57BL/6 |
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gpc3tm1Snd mutation
(0 available);
any
Gpc3 mutation
(17 available)
|
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mortality/aging
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• normal numbers of hemizygotes atE16.5
• hemizygotes reduced from 26% to 16% by weaning
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growth/size/body
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• ventral wall closure defects with incomplete penetrance
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• medullary cystic dysplasia
|
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• males are 30% larger than controls
• females show intermediate growth properties
|
renal/urinary system
|
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• medullary cystic dysplasia
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• medullary cystic dysplasia
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skeleton
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• reduced conversion of macrophage precursors to osteoclasts
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• 45% of mice show defects in endochondral ossification
• persistence of hypertrophic chondrocytes at E16.5 when controls have replaced chondrocytes with trabecular bone
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hematopoietic system
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• reduced conversion of macrophage precursors to osteoclasts
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immune system
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• reduced conversion of macrophage precursors to osteoclasts
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embryo
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• small to moderate umbilical hernias
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cardiovascular system
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• seen in one P0 mutant mouse
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• 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
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• 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
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• seen in one P0 mutant mouse; the pulmonic valve was ventral and leftward to the aortic valve, which also arose from the right ventricle
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• at P0, two mutant animals had a common atrioventricular canal with leaflets of the common valve bridging the two ventricles
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• at P0, two mutant animals had a common atrioventricular canal with leaflets of the common valve bridging the two ventricles
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• at P0, some mutant hearts exhibit VSD (5/16 hearts; 4 perimembranous, 1 inlet)
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cellular
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• seen in one P0 mutant mouse
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• reduced conversion of macrophage precursors to osteoclasts
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Analysis Tools