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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Gpc3+
wild type
MGI:2433496
Summary 5 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
ht1
Gpc3tm1Fil/Gpc3+ B6.Cg-Gpc3tm1Fil MGI:3530366
ht2
Gpc3tm1Arge/Gpc3+ either: (involves: 129S/SvEv * 129S1/Sv) or (involves: 129S1/Sv * C57BL/6J) MGI:3629781
ht3
Gpc3Gt(Ex136)Byg/Gpc3+ involves: 129P2/OlaHsd * C57BL/6 MGI:3849593
ht4
Gpc3tm1Snd/Gpc3+ involves: 129X1/SvJ * C57BL/6 MGI:3849591
cx5
Gpc3tm1Arge/Gpc3+
Igf2tm1Rob/Igf2+
involves: 129S/SvEv * 129S1/Sv * C57BL/6J MGI:3629782


Genotype
MGI:3530366
ht1
Allelic
Composition
Gpc3tm1Fil/Gpc3+
Genetic
Background
B6.Cg-Gpc3tm1Fil
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gpc3tm1Fil mutation (1 available); any Gpc3 mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Cystic and dysplastic kidneys in Gpc3tm1Fil/Gpc3+ mice

renal/urinary system
• from N4 on, some heterozygous females display cystic kidneys (also noted in a large proportion of mice from earlier backcrosses)
• from N4 on, some heterozygous females display dysplastic kidneys (also noted in a large proportion of mice from earlier backcrosses)
• the degree of renal dysplasia varies from mouse to mouse

growth/size/body
• heterozygotes display an intermediate size between hemizygous mutant males and wild-type controls at all time points
• from N4 on, some heterozygous females display cystic kidneys (also noted in a large proportion of mice from earlier backcrosses)

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Simpson-Golabi-Behmel syndrome type 1 DOID:0060248 OMIM:312870
J:73877




Genotype
MGI:3629781
ht2
Allelic
Composition
Gpc3tm1Arge/Gpc3+
Genetic
Background
either: (involves: 129S/SvEv * 129S1/Sv) or (involves: 129S1/Sv * C57BL/6J)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gpc3tm1Arge mutation (0 available); any Gpc3 mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
pigmentation
• 26% lack pigmentation in the feet and distal third of their tails
• about 2% exhibit white belly spotting

integument
• 26% lack pigmentation in the feet and distal third of their tails
• about 2% exhibit white belly spotting




Genotype
MGI:3849593
ht3
Allelic
Composition
Gpc3Gt(Ex136)Byg/Gpc3+
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gpc3Gt(Ex136)Byg mutation (0 available); any Gpc3 mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• ventral wall closure defects with incomplete penetrance
• usually results in small to moderate umbilical hernias
• medullary cystic dysplasia
• males are 30% larger than controls
• females show intermediate growth properties

renal/urinary system
• medullary cystic dysplasia
• medullary cystic dysplasia

skeleton
• 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




Genotype
MGI:3849591
ht4
Allelic
Composition
Gpc3tm1Snd/Gpc3+
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 (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• ventral wall closure defects with incomplete penetrance
• usually results in small to moderate umbilical hernias
• medullary cystic dysplasia
• males are 30% larger than controls
• females show intermediate growth properties

renal/urinary system
• medullary cystic dysplasia
• medullary cystic dysplasia

skeleton
• 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




Genotype
MGI:3629782
cx5
Allelic
Composition
Gpc3tm1Arge/Gpc3+
Igf2tm1Rob/Igf2+
Genetic
Background
involves: 129S/SvEv * 129S1/Sv * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gpc3tm1Arge mutation (0 available); any Gpc3 mutation (18 available)
Igf2tm1Rob mutation (1 available); any Igf2 mutation (27 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• double mutants inheriting the mutant Igf2 allele paternally are larger than mice lacking Igf2

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





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last database update
03/18/2025
MGI 6.24
The Jackson Laboratory