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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Cys1cpk
congenital polycystic kidneys
MGI:1856831
Summary 12 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Cys1cpk/Cys1cpk 129.B6-Cys1cpk MGI:3789177
hm2
Cys1cpk/Cys1cpk B6(Cg)-Cys1cpk/J MGI:2175905
hm3
Cys1cpk/Cys1cpk B6(Cg)-Cys1cpk/JUnc MGI:3583529
hm4
Cys1cpk/Cys1cpk C.B6(Cg)-Cys1cpk MGI:3583531
hm5
Cys1cpk/Cys1cpk D2J.B6(Cg)-Cys1cpk MGI:3583532
hm6
Cys1cpk/Cys1cpk involves: C57BL/6J * CD-1 MGI:3583530
ht7
Cys1cpk/Cys1+ B6(Cg)-Cys1cpk/J MGI:3583533
ht8
Cys1cpk/Cys1+ C.B6(Cg)-Cys1cpk MGI:3583563
ht9
Cys1cpk/Cys1+ involves: C57BL/6J * CD-1 MGI:3583534
cx10
Cys1cpk/Cys1cpk
Lgals3tm1Ftl/Lgals3tm1Ftl
B6.Cg-Cys1cpk Lgals3tm1Ftl MGI:3789178
cx11
Cys1cpk/Cys1cpk
Lgals3tm1Ftl/Lgals3tm1Ftl
involves: 129/Sv * C57BL/6 MGI:3789176
cx12
Cux1tm1Ejn/Cux1tm1Ejn
Cys1cpk/Cys1cpk
involves: 129S4/SvJae * C57BL/6 MGI:3835329


Genotype
MGI:3789177
hm1
Allelic
Composition
Cys1cpk/Cys1cpk
Genetic
Background
129.B6-Cys1cpk
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cys1cpk mutation (1 available); any Cys1 mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system

liver/biliary system

endocrine/exocrine glands

immune system




Genotype
MGI:2175905
hm2
Allelic
Composition
Cys1cpk/Cys1cpk
Genetic
Background
B6(Cg)-Cys1cpk/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cys1cpk mutation (1 available); any Cys1 mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• die by 20-23 days of age (J:6718)
• die around 19 days of age (J:31533)

renal/urinary system
• urine is colorless in grossly affected mice
• large cysts distort the corticomedullary junction
• at 23 days of age, kidneys occupy almost the entire abdominal cavity (J:6718)
• at 17-24 days of age, average kidneys size was 16 mm x 11 mm compared to 6 mm x 3 mm in wild-type mice (J:6718)
• increase in kidney size is the result of both increased cystic fluid and increased cell mass (J:9290)
• kidney weight is increased in newborns and a progressive increase in kidney wet and dry weight as well as size is seen with age
• large cysts occupy the entire kidney, distort the corticomedullary junction, involve collecting ducts and other portions of the kidney, and are lined with flattened epithelium the is frequently squamous (J:6718)
• initially presents as dilation of the proximal tubule in fetal and newborn mice, then shifts to dilation of the cortical and medullary collecting ducts after the first week of life (J:9290)
• epithelial hyperplasia but not polypoid hyperplasia is seen in the cysts (J:9290)
• bilateral polycystic kidneys become apparent by 8 - 9 days of age

homeostasis/metabolism
• mean BUN was 120mg% compared to 0.2mg% in wild-type mice (J:6718)
• progressive azotemia seen starting at 1 week of age (J:9290)
• urine is colorless in grossly affected mice

growth/size/body
• seen at 10-13 days of age (J:6718)
• apparent by 8 - 9 days of age (J:31533)

hematopoietic system
• seen at 2 - 3 weeks of age

behavior/neurological
• become progressively lethargic

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
autosomal recessive polycystic kidney disease DOID:0110861 OMIM:263200
J:6718 , J:9290




Genotype
MGI:3583529
hm3
Allelic
Composition
Cys1cpk/Cys1cpk
Genetic
Background
B6(Cg)-Cys1cpk/JUnc
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cys1cpk mutation (1 available); any Cys1 mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• most die by 4 weeks of age with a few rare survivors reaching 5 weeks of age

renal/urinary system
• at around 4 weeks of age urine becomes colorless
• at 3 weeks of age the kidney occupies almost the entire abdominal cavity and constitutes about 25% of body weight
• cysts are grossly visible on cut surfaces of kidneys at 3 weeks of age with mild cystic changes already visible at E17
• progressive dilation of the proximal convoluted tubules and collecting ducts associated with intracellular vacuoles in proximal convoluted tubule cells

homeostasis/metabolism
• at around 4 weeks of age urine becomes colorless

growth/size/body
• seen at 3 weeks of age

behavior/neurological
• seen at around 4 weeks of age
• seen at around 4 weeks of age

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
autosomal recessive polycystic kidney disease DOID:0110861 OMIM:263200
J:7202




Genotype
MGI:3583531
hm4
Allelic
Composition
Cys1cpk/Cys1cpk
Genetic
Background
C.B6(Cg)-Cys1cpk
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cys1cpk mutation (1 available); any Cys1 mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system
• rapid kidney enlargement after birth associated with development of cysts in the collecting ducts
• EGF treatment reduced kidney size but did not improve kidney function
• after birth cysts shift to the collecting ducts and cysts are lined with a single layer of epithelial cells with polygonal principal-like cell appearance
• EGF treatment reduces the severity of kidney cysts
• newborns have cysts in the inner cortical proximal tubules

homeostasis/metabolism
• significant by 10 days of age

endocrine/exocrine glands
• dilation of the pancreatic ducts present in newborns
• intrahepatic biliary duct cysts associated with peridcuctal hyperplasia and fibrosis
• common bile duct dilation
• EGF treatment reduces bile duct dilation
• almost no islets of Langerhans seen
• periductal fibrosis

liver/biliary system
• intrahepatic biliary duct cysts associated with peridcuctal hyperplasia and fibrosis
• common bile duct dilation
• EGF treatment reduces bile duct dilation
• peridcuctal fibrosis associated with intrahepatic biliary duct cysts

growth/size/body
• seen at 5 and 15 days of age

digestive/alimentary system
• dilation of the pancreatic ducts present in newborns

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
autosomal recessive polycystic kidney disease DOID:0110861 OMIM:263200
J:99616




Genotype
MGI:3583532
hm5
Allelic
Composition
Cys1cpk/Cys1cpk
Genetic
Background
D2J.B6(Cg)-Cys1cpk
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cys1cpk mutation (1 available); any Cys1 mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system
• kidneys are grossly enlarged
• kidney wet weight is increased to 1.96g - 2.12g compared to 0.16g - 0.19g in wild-type mice
• multiple cysts of varying size that obscure the demarcation between the cortex and medulla
• cysts become larger with age and are initially found in the proximal tubules epithelial intercellular spaces are often focally ballooned

homeostasis/metabolism
• mean creatinine is 0.66mg% compared to 0.23mg% in wild-type mice
• mean BUN is 143mg% compared to 21mg% in wild-type mice

endocrine/exocrine glands
• poorly-formed acini are connected to enlarged, dilated ducts
• exocrine cells containing zygomen granules are seen in clusters unassociated with well-formed acini
• poorly-formed acini are connected to enlarged, dilated ducts
• bile ductules are somewhat enlarged
• few if any well-formed islets are found
• normal architecture is replaced by sheets of fibrous tissue

liver/biliary system
• bile ductules are somewhat enlarged
• some portal areas have increased fibrous tissue

behavior/neurological
• feed poorly during the first few hours of life and generally fail to thrive

digestive/alimentary system
• poorly-formed acini are connected to enlarged, dilated ducts
• exocrine cells containing zygomen granules are seen in clusters unassociated with well-formed acini
• poorly-formed acini are connected to enlarged, dilated ducts

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
autosomal recessive polycystic kidney disease DOID:0110861 OMIM:263200
J:99620




Genotype
MGI:3583530
hm6
Allelic
Composition
Cys1cpk/Cys1cpk
Genetic
Background
involves: C57BL/6J * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cys1cpk mutation (1 available); any Cys1 mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• uremic mortality is seen in less than 10% of homozygotes at 14-20 days of age

renal/urinary system
• seen at 4 days of age
• at 4 days of age proximal tubule cysts are seen with focal collecting duct dilations in the cortex and outer medulla and by 8-20 days of age collecting duct cysts expand to replace almost all the normal kidney tissue
• cells lining the proximal tubule cysts and later the collecting duct cysts appear immature

homeostasis/metabolism
• azotemia seen at 12 days of age

endocrine/exocrine glands
• all common bile ducts have cysts
• all pancreatic ducts have cysts

liver/biliary system
• all common bile ducts have cysts
• intrahepatic bile duct cysts consisting of focal dilations in the triad region through to the terminal intrahepatic branches without signs of significant periductal proliferation

immune system

hematopoietic system

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
autosomal recessive polycystic kidney disease DOID:0110861 OMIM:263200
J:33739




Genotype
MGI:3583533
ht7
Allelic
Composition
Cys1cpk/Cys1+
Genetic
Background
B6(Cg)-Cys1cpk/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cys1cpk mutation (1 available); any Cys1 mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
• the perilymphatic side of Reissner's membrane is transparent but the endolymphatic side is normal
• the organ of Corti is absent from the first cochlear turn but present in the second cochlear turn
• in the second cochlear turn the inner and outer hair cells are normal but debris is seen in Nuel's space and the outer pillar cells
• in the upper portion of the first turn of the cochlea outer hair cells are absent
• in the upper portion of the first turn of the cochlea, vesicle formation is seen in the inner hair cells
• some inner pillar cells show a cystic formation at the base of the cell
• hearing is impaired with auditory evoked potential indicating some hearing loss at 90 db

nervous system
• in the upper portion of the first turn of the cochlea outer hair cells are absent
• in the upper portion of the first turn of the cochlea, vesicle formation is seen in the inner hair cells
• few spiral ganglia are seen in the first cochlear turn




Genotype
MGI:3583563
ht8
Allelic
Composition
Cys1cpk/Cys1+
Genetic
Background
C.B6(Cg)-Cys1cpk
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cys1cpk mutation (1 available); any Cys1 mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
liver/biliary system
• massive hepatic biliary ductal cysts are seen in 1 year old heterozygotes
• associated with liver cysts




Genotype
MGI:3583534
ht9
Allelic
Composition
Cys1cpk/Cys1+
Genetic
Background
involves: C57BL/6J * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cys1cpk mutation (1 available); any Cys1 mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system
• proximal tubular cysts seen in 1 year old heterozygotes

liver/biliary system
• heptatic cysts lined with biliary epithelium are seen in 1 year old heterozygotes
• seen in 1 year old heterozygotes, associated with hepatic cysts




Genotype
MGI:3789178
cx10
Allelic
Composition
Cys1cpk/Cys1cpk
Lgals3tm1Ftl/Lgals3tm1Ftl
Genetic
Background
B6.Cg-Cys1cpk Lgals3tm1Ftl
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cys1cpk mutation (1 available); any Cys1 mutation (3 available)
Lgals3tm1Ftl mutation (2 available); any Lgals3 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system
• mice develop medullary and cortical cysts
• however, gross ciliary structure is normal
• mice develop more cortical cysts than in Cys1cpk homozygotes




Genotype
MGI:3789176
cx11
Allelic
Composition
Cys1cpk/Cys1cpk
Lgals3tm1Ftl/Lgals3tm1Ftl
Genetic
Background
involves: 129/Sv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cys1cpk mutation (1 available); any Cys1 mutation (3 available)
Lgals3tm1Ftl mutation (2 available); any Lgals3 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system
• mice exhibit an increase in kidney weight and kidney weight to body weight ratio compared to in Lgals3tm1Poi homozygotes
• mice develop medullary and cortical cysts
• however, gross ciliary structure is normal
• mice develop more cortical cysts than in Cys1cpk homozygotes




Genotype
MGI:3835329
cx12
Allelic
Composition
Cux1tm1Ejn/Cux1tm1Ejn
Cys1cpk/Cys1cpk
Genetic
Background
involves: 129S4/SvJae * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cux1tm1Ejn mutation (1 available); any Cux1 mutation (16 available)
Cys1cpk mutation (1 available); any Cys1 mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system
• P10, kidneys are larger than in Cys1cpk homozygotes
• at P3 and P10, kidney weight to body weight ratio is larger than in Cys1cpk homozygotes
• mice develop kidney cysts at the same frequency as in Cys1cpk homozygotes but cysts are larger in size
• mice exhibit an increase in the number of advanced stage cysts compared to in Cys1cpk homozygotes
• cysts are primarily restricted to the collecting ducts with few proximal tubule cysts
• proliferation and apoptosis of cystic kidneys is increased compared to in Cys1cpk homozygotes

homeostasis/metabolism
• compared to in Cys1cpk homozygotes at P10





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last database update
03/19/2019
MGI 6.13
The Jackson Laboratory