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Phenotypes Associated with This Genotype
Genotype
MGI:3530366
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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory