Phenotypes Associated with This Genotype

Genotype
MGI:3629875

• Allelic Composition: Gpc3^tm1Arge/Y; H19^tm1Tilg/H19⁺
• Genetic Background: involves: 129S/SvEv * 129S1/Sv

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

mortality/aging

perinatal lethality, incomplete penetrance ( J:75054 )

♂ • about 70% of double mutant males that inherit the H19 allele maternally are stillborn

postnatal lethality, incomplete penetrance ( J:75054 )

♂ • some additional mutants (that inherit the H19 allele maternally) that survive the perinatal period die before weaning

embryo

increased placenta weight ( J:75054 )

♂ • placentas are 94% heavier at E18.5 than in wild-type in double mutants that inherit the H19 allele maternally

growth/size/body

increased body weight ( J:75054 )

♂ • double mutants that inherit the H19 allele maternally are heavier than wildtype at E18.5, but similar in weight as either single mutant

omphalocele ( J:75054 )

♂ • seen in 13 of 16 double mutants that inherit the H19 allele maternally

skeleton

asymmetric sternocostal joints ( J:75054 )

♂ • 3 of 6 double mutants that inherit the H19 allele maternally exhibit asymmetrical and staggered attachment of the ribs to the sternum

abnormal sternum ossification ( J:75054 )

♂ • ossification of the sternum throughout its length

split xiphoid process ( J:75054 )

♂ • in 3 of 6 mutants double mutants that inherit the H19 allele maternally, the cartilage of the xiphisternum is bifurcated

increased rib number ( J:75054 )

♂ • one severely affected double mutant with the fusion of the first two ribs also has an extra (14th) pair of rudimentary ribs associated with the first pair of lumbar vertebrae

rib fusion ( J:75054 )

♂ • one severely affected double mutant shows unilateral fusion of the first two ribs in the middle portion

cellular

paternal imprinting ( J:75054 )

♂ • defects are seen in double mutants that receive the H19 mutant allele from the mother

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Simpson-Golabi-Behmel syndrome type 1		DOID:0060248	OMIM:312870	J:75054