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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Pkd1tm1.1Fqi
targeted mutation 1.1, Feng Qian
MGI:5470234
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Pkd1tm1.1Fqi/Pkd1tm1.1Fqi B6.129S6-Pkd1tm1.1Fqi MGI:5470236
hm2
Pkd1tm1.1Fqi/Pkd1tm1.1Fqi involves: 129S6/SvEvTac MGI:5471141
cx3
Gpsm1tm1.1Lajb/Gpsm1tm1.1Lajb
Pkd1tm1.1Fqi/Pkd1tm1.1Fqi
involves: 129S6/SvEvTac MGI:5471136
cx4
Gpsm1tm1.1Lajb/Gpsm1+
Pkd1tm1.1Fqi/Pkd1tm1.1Fqi
involves: 129S6/SvEvTac MGI:5471140


Genotype
MGI:5470236
hm1
Allelic
Composition
Pkd1tm1.1Fqi/Pkd1tm1.1Fqi
Genetic
Background
B6.129S6-Pkd1tm1.1Fqi
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkd1tm1.1Fqi mutation (0 available); any Pkd1 mutation (99 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Small size and postnatal development of cystic kidney in Pkd1tm1.1Fqi/Pkd1tm1.1Fqi mice

mortality/aging
• mice die between 2 and 6 weeks after birth, with about 50% dead by the third week of age
• mice die between 2 and 6 weeks after birth, with about 50% dead by the third week of age

growth/size/body
• mice become slightly smaller beginning at P9 and display markedly smaller body statures by P16 and weigh less than half the wild-type littermates after 3 weeks of age
• mice exhibit distended abdomens at P16

homeostasis/metabolism
• mice have elevated blood urea nitrogen levels at P14 and P23

liver/biliary system
• mice at P9 and P16 exhibit dilated common bile ducts

endocrine/exocrine glands
• mice at P9 and P16 exhibit dilated common bile ducts

renal/urinary system
• mice at P9 and P16 have pale, grossly enlarged cystic kidneys
• mice show rapid and progressive tubular dilation of the kidneys during the postnatal maturation stage
• at P0, kidneys contain a few microcysts in the subcortical region, from P1-P5, the number and size of cysts increases, initially in the cortex and then extending into the medulla, and by P14, cysts replace most of the normal renal parenchyma except for the papillae tip, and massive cystic kidneys by P22-P28
• most cysts are of collecting duct origin, indicating that renal tubular cystic dilation involves primarily distal nephron segments




Genotype
MGI:5471141
hm2
Allelic
Composition
Pkd1tm1.1Fqi/Pkd1tm1.1Fqi
Genetic
Background
involves: 129S6/SvEvTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkd1tm1.1Fqi mutation (0 available); any Pkd1 mutation (99 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism

renal/urinary system
• at P11-12

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
polycystic kidney disease 1 DOID:0110858 OMIM:173900
J:193175




Genotype
MGI:5471136
cx3
Allelic
Composition
Gpsm1tm1.1Lajb/Gpsm1tm1.1Lajb
Pkd1tm1.1Fqi/Pkd1tm1.1Fqi
Genetic
Background
involves: 129S6/SvEvTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gpsm1tm1.1Lajb mutation (1 available); any Gpsm1 mutation (4 available)
Pkd1tm1.1Fqi mutation (0 available); any Pkd1 mutation (99 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• plasma creatinine is increased in mice compared to single Pkd1 homozygotes at P11-12
• blood urea nitrogen is higher in mice compared to single Pkd1 homozygotes at P19

renal/urinary system
• kidney-to-body weight ratio is higher than in single Pkd1 homozygotes or wild-type mice at P11-12
• mice exhibit an increase in cyst progression compared to single Pkd1 homozygotes
• proliferating cell nuclear antigen-positive renal cystic epithelial cells are higher than in single Pkd1 homozygous kidneys
• renal function is reduced in double mutants more than in single Pkd1 homozygotes as indicating by a larger increase in blood urea nitrogen and plasma creatinine levels

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
polycystic kidney disease 1 DOID:0110858 OMIM:173900
J:193175




Genotype
MGI:5471140
cx4
Allelic
Composition
Gpsm1tm1.1Lajb/Gpsm1+
Pkd1tm1.1Fqi/Pkd1tm1.1Fqi
Genetic
Background
involves: 129S6/SvEvTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gpsm1tm1.1Lajb mutation (1 available); any Gpsm1 mutation (4 available)
Pkd1tm1.1Fqi mutation (0 available); any Pkd1 mutation (99 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• blood urea nitrogen is higher than in wild-type mice but is increased to a similar extent as in single Pkd1 homozygotes

renal/urinary system
• kidney-to-body weight ratio is higher at P11-12 than in wild-type mice but similar to that in single Pkd1 homozygotes





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
09/10/2019
MGI 6.14
The Jackson Laboratory