Phenotypes Associated with This Genotype

Genotype
MGI:3849591

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

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

growth/size/body

abnormal ventral body wall morphology ( J:64330 )

♀ • ventral wall closure defects with incomplete penetrance

♀ • usually results in small to moderate umbilical hernias

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

split xiphoid process ( J:64330 )

♀ • bifurcated

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Simpson-Golabi-Behmel syndrome type 1		DOID:0060248	OMIM:312870	J:64330