Phenotypes Associated with This Genotype

Genotype
MGI:3849592

• Allelic Composition: Gpc3^Gt(Ex136)Byg/Y
• Genetic Background: involves: 129P2/OlaHsd * 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 at E16.5

♂ • 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

♂ • usually results in small to moderate umbilical hernias

kidney medulla 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

abnormal kidney medulla morphology ( J:64330 )

♂ • medullary cystic dysplasia

kidney medulla cyst ( 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