Phenotypes associated with this allele

• Allele Symbol: Gpc3^tm1Arge
• Allele Name: targeted mutation 1, Argiris Efstratiadis
• Allele ID: MGI:2657134
• Summary: 11 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gpc3^tm1Arge/Gpc3^tm1Arge	either: (involves: 129S/SvEv * 129S1/Sv) or (involves: 129S1/Sv * C57BL/6J)	MGI:3629778
ht2	Gpc3^tm1Arge/Gpc3^+	either: (involves: 129S/SvEv * 129S1/Sv) or (involves: 129S1/Sv * C57BL/6J)	MGI:3629781
cx3	Gpc3^tm1Arge/Y H19^tm1Tilg/H19^+	involves: 129S/SvEv * 129S1/Sv	MGI:3629875
cx4	Gpc3^tm1Arge/Gpc3^tm1Arge H19^tm1Tilg/H19^+	involves: 129S/SvEv * 129S1/Sv	MGI:3629878
cx5	Gpc3^tm1Arge/Gpc3^+ Igf2^tm1Rob/Igf2^+	involves: 129S/SvEv * 129S1/Sv * C57BL/6J	MGI:3629782
cx6	Gpc3^tm1Arge/Y Igf2^tm1Rob/Igf2^+	involves: 129S/SvEv * 129S1/Sv * C57BL/6J	MGI:3629874
cx7	Gpc3^tm1Arge/Y Igf1r^tm1Arge/Igf1r^tm1Arge	involves: 129S/SvEv * 129S1/Sv * C57BL/6J	MGI:3629887
cx8	Gpc3^tm1Arge/Gpc3^tm1Arge Igf1r^tm1Arge/Igf1r^tm1Arge	involves: 129S/SvEv * 129S1/Sv * C57BL/6J	MGI:3629890
cx9	Gpc3^tm1Arge/Gpc3^tm1Arge Igf1^tm1Arge/Igf1^tm1Arge	involves: 129S/SvEv * 129S1/Sv * C57BL/6J * DBA * MF1	MGI:3629898
cx10	Gpc3^tm1Arge/Y Igf1^tm1Arge/Igf1^tm1Arge	involves: 129S/SvEv * 129S1/Sv * C57BL/6J * DBA * MF1	MGI:3629900
ot11	Gpc3^tm1Arge/Y	either: (involves: 129S/SvEv * 129S1/Sv) or (involves: 129S1/Sv * C57BL/6J)	MGI:3629779

Genotype
MGI:3629778

hm1

• Allelic Composition: Gpc3^tm1Arge/Gpc3^tm1Arge
• Genetic Background: either: (involves: 129S/SvEv * 129S1/Sv) or (involves: 129S1/Sv * C57BL/6J)

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:75054 )

♀ • Background Sensitivity: 10.5% die before weaning on a mixed 129S1/Sv and C57BL/6J background, while on a 129S background, only recover about 20% of the expected number

embryo

increased placenta weight ( J:75054 )

♀ • placentas are heavier than wild-type at E18.5

pigmentation

white spotting ( J:75054 )

♀ • 80% lack pigmentation in the feet and distal third of their tails

belly spot ( J:75054 )

♀ • about 10% exhibit white belly spotting that is confined to the ventral side around the umbilicus and has sharp borders

respiratory system

respiratory system phenotype ( J:75054 )

♀N • no evidence of abnormal lung development or respiratory infections

integument

white spotting ( J:75054 )

♀ • 80% lack pigmentation in the feet and distal third of their tails

belly spot ( J:75054 )

♀ • about 10% exhibit white belly spotting that is confined to the ventral side around the umbilicus and has sharp borders

Genotype
MGI:3629781

ht2

• Allelic Composition: Gpc3^tm1Arge/Gpc3⁺
• Genetic Background: either: (involves: 129S/SvEv * 129S1/Sv) or (involves: 129S1/Sv * C57BL/6J)

pigmentation

white spotting ( J:75054 )

♀ • 26% lack pigmentation in the feet and distal third of their tails

belly spot ( J:75054 )

♀ • about 2% exhibit white belly spotting

integument

white spotting ( J:75054 )

♀ • 26% lack pigmentation in the feet and distal third of their tails

belly spot ( J:75054 )

♀ • about 2% exhibit white belly spotting

Genotype
MGI:3629875

cx3

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

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

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

abnormal sternum ossification ( J:75054 )

♂ • ossification of the sternum throughout its length

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

Genotype
MGI:3629878

cx4

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

mortality/aging

perinatal lethality, incomplete penetrance ( J:75054 )

♀ • about 70% of double mutants 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

cellular

paternal imprinting ( J:75054 )

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

Genotype
MGI:3629782

cx5

• Allelic Composition: Gpc3^tm1Arge/Gpc3⁺; Igf2^tm1Rob/Igf2⁺
• Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6J

growth/size/body

abnormal body size ( J:75054 )

♀ • double mutants inheriting the mutant Igf2 allele paternally are larger than mice lacking Igf2

cellular

maternal imprinting ( J:75054 )

♀ • defect is seen in double mutants that receive the Igf2 mutant allele from the father

Genotype
MGI:3629874

cx6

• Allelic Composition: Gpc3^tm1Arge/Y; Igf2^tm1Rob/Igf2⁺
• Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6J

growth/size/body

abnormal body size ( J:75054 )

♂ • double mutants inheriting the mutant allele paternally are larger than mice lacking Igf2

cellular

maternal imprinting ( J:75054 )

♂ • defect is seen in double mutants that receive the Igf2 mutant allele from the father

Genotype
MGI:3629887

cx7

• Allelic Composition: Gpc3^tm1Arge/Y; Igf1r^tm1Arge/Igf1r^tm1Arge
• Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6J

mortality/aging

perinatal lethality, complete penetrance ( J:75054 )

♂ • mutants are stillborn

limbs/digits/tail

abnormal calcaneum morphology ( J:75054 )

♂ • the calcaneus is not positioned at an angle with respect to the tibia resulting in a club foot like phenotype

abnormal hindlimb morphology ( J:75054 )

♂ • 9 of 14 exhibit a hindlimb defect resembling club foot; the hind paws are abnormally bent medially with respect to the axis of the tibia

skeleton

abnormal calcaneum morphology ( J:75054 )

♂ • the calcaneus is not positioned at an angle with respect to the tibia resulting in a club foot like phenotype

Genotype
MGI:3629890

cx8

• Allelic Composition: Gpc3^tm1Arge/Gpc3^tm1Arge; Igf1r^tm1Arge/Igf1r^tm1Arge
• Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6J

mortality/aging

perinatal lethality, complete penetrance ( J:75054 )

♀ • mutants are stillborn

limbs/digits/tail

abnormal calcaneum morphology ( J:75054 )

♀ • the calcaneus is not positioned at an angle with respect to the tibia resulting in a club foot like phenotype

abnormal hindlimb morphology ( J:75054 )

♀ • 9 of 14 exhibit a hindlimb defect resembling club foot; the hind paws are abnormally bent medially with respect to the axis of the tibia

skeleton

abnormal calcaneum morphology ( J:75054 )

♀ • the calcaneus is not positioned at an angle with respect to the tibia resulting in a club foot like phenotype

Genotype
MGI:3629898

cx9

• Allelic Composition: Gpc3^tm1Arge/Gpc3^tm1Arge; Igf1^tm1Arge/Igf1^tm1Arge
• Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6J * DBA * MF1

mortality/aging

postnatal lethality, complete penetrance ( J:75054 )

♀ • mutants that are not stillborn die before weaning

perinatal lethality, incomplete penetrance ( J:75054 )

♀ • some mutants are stillborn

Genotype
MGI:3629900

cx10

• Allelic Composition: Gpc3^tm1Arge/Y; Igf1^tm1Arge/Igf1^tm1Arge
• Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6J * DBA * MF1

mortality/aging

postnatal lethality, complete penetrance ( J:75054 )

♂ • mutants that are not stillborn die before weaning

perinatal lethality, incomplete penetrance ( J:75054 )

♂ • some mutants are stillborn

Genotype
MGI:3629779

ot11

• Allelic Composition: Gpc3^tm1Arge/Y
• Genetic Background: either: (involves: 129S/SvEv * 129S1/Sv) or (involves: 129S1/Sv * C57BL/6J)

mortality/aging

postnatal lethality, incomplete penetrance ( J:75054 )

♂ • Background Sensitivity: 10.5% die before weaning on a mixed 129S1/Sv and C57BL/6J background, while on a 129S background, only about 20% of the expected number are recovered

growth/size/body

increased body weight ( J:75054 )

♂ • mutants become significantly heavier starting at E12.5 and are about 30% heavier at E18.5

♂ • the cumulative weight is about 120%N at birth, begins to decrease continuously so that between P14 and 19, mutants are no longer larger than controls, followed by growth at an accelerated rate after the interval of growth failure, such that at P170, weight is about 25% higher than in controls

kidney cyst ( J:75054 )

♂ • scattered small tubular cysts, predominantly in the proximal tubules, are found in both the renal cortex and medulla

kidney cortex cyst ( J:75054 )

♂ • exhibit cystic changes in the renal cortex

kidney corticomedullary cyst ( J:75054 )

♂ • cysts are most prominent in the proximity of the corticomedullary junction

kidney medulla cyst ( J:75054 )

♂ • exhibit cystic changes in the renal medulla

postnatal growth retardation ( J:75054 )

♂ • exhibit transient growth retardation such that there is a greater decline in growth rate at P10-P15 than in wild-type, however this phase is followed by a higher than normal growth rate during the pubertal growth spurt and by P40, the growth rates are indistinguishable

distended abdomen ( J:75054 )

♂ • neonates exhibit presence of intestinal gas that results in abdominal distension

embryo

increased placental labyrinth size ( J:75054 )

♂ • expansion of the labyrinth

increased placenta weight ( J:75054 )

♂ • placentas are 22% heavier at E14.5 and 38.6% heavier at E18.5

digestive/alimentary system

abnormal intestine morphology ( J:75054 )

♂ • neonates exhibit presence of intestinal gas, usually localized in the ileum but is also seen in the entire length of the small and large intestine, however do not observe gas in the stomach and gastrointestinal motility is normal; gas dissipates by P18 in surviving mice

hematopoietic system

small spleen ( J:75054 )

♂ • spleens are smaller

decreased spleen weight ( J:75054 )

♂ • the average spleen to body weight ratio does not exceed about 60% of the normal value

increased spleen B cell follicle size ( J:75054 )

♂ • at 6 months of age, observe an enlargement of the follicles present in a complex anastomosing pattern

homeostasis/metabolism

hypoglycemia ( J:75054 )

♂ • the severely growth retarded mutants are hypoglycemic at P15 but not at P1, when they are still normal sized

abnormal enzyme/coenzyme activity ( J:75054 )

♂ • intestinal lactase activity is about 2-fold lower than in wild-type

immune system

small spleen ( J:75054 )

♂ • spleens are smaller

decreased spleen weight ( J:75054 )

♂ • the average spleen to body weight ratio does not exceed about 60% of the normal value

increased spleen B cell follicle size ( J:75054 )

♂ • at 6 months of age, observe an enlargement of the follicles present in a complex anastomosing pattern

craniofacial

absent mandible ( J:75054 )

♂ • 2.5% (2/79) exhibit agnathia with only a small bud of skin present instead of the lower jaw

limbs/digits/tail

polydactyly ( J:75054 )

♂ • 7.6% (6/79) exhibit polydactyly that is always postaxial; affects mostly the forelimbs but cases with extra digits in both fore- and hindlimbs or only in hindlimbs are also seen

pigmentation

white spotting ( J:75054 )

♂ • 80% lack pigmentation in the feet and distal third of their tails

belly spot ( J:75054 )

♂ • about 10% exhibit white belly spotting that is confined to the ventral side around the umbilicus and has sharp borders

renal/urinary system

abnormal kidney morphology ( J:75054 )

♂ • variable degree of severity of dysplasia that correlates with mortality; kidney abnormalities are not very prominent in long-lived survivors

kidney cyst ( J:75054 )

♂ • scattered small tubular cysts, predominantly in the proximal tubules, are found in both the renal cortex and medulla

kidney cortex cyst ( J:75054 )

♂ • exhibit cystic changes in the renal cortex

kidney corticomedullary cyst ( J:75054 )

♂ • cysts are most prominent in the proximity of the corticomedullary junction

kidney medulla cyst ( J:75054 )

♂ • exhibit cystic changes in the renal medulla

kidney cortex atrophy ( J:75054 )

♂ • renal cortex is thinner at P15

abnormal kidney medulla morphology ( J:75054 )

♂ • the thinner renal cortex is accompanied by an expansion of the medulla in the form of irregular clusters of distal tubules protruding unevenly beyond the medulla into the renal cortex

hydronephrosis ( J:75054 )

♂ • seen in several adults

dilated renal tubule ( J:75054 )

♂ • stillborns, but not E16.5-E18.5 embryos, exhibit dilatation of renal tubules throughout the kidneys with variable severity

skeleton

absent mandible ( J:75054 )

♂ • 2.5% (2/79) exhibit agnathia with only a small bud of skin present instead of the lower jaw

asymmetric sternocostal joints ( J:75054 )

♂ • attachment of the ribs to the sternum occurs in a slightly asymmetrical fashion resulting in a variation (not a true abnormality) called crankshaft-sternum

respiratory system

respiratory system phenotype ( J:75054 )

♂N • no evidence of abnormal lung development or respiratory infections

integument

white spotting ( J:75054 )

♂ • 80% lack pigmentation in the feet and distal third of their tails

belly spot ( J:75054 )

♂ • about 10% exhibit white belly spotting that is confined to the ventral side around the umbilicus and has sharp borders

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