All Phenotypes Pkd1<tm1Som> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Pkd1^tm1Som
targeted mutation 1, Stefan Somlo
MGI:3793793

Summary

7 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pkd1^tm1Som/Pkd1^tm1Som	involves: 129/Sv * C57BL/6 * SJL	MGI:3795604
ht2	Pkd1^tm1Som/Pkd1⁺	involves: 129/Sv * C57BL/6 * SJL	MGI:3795607
cn3	Pkd1^tm1Som/Pkd1⁺ Prkcsh^tm1Som/Prkcsh^tm1Som Tg(Cdh16-cre)91Igr/0	involves: 129 * C57BL/6 * C57BL/6J * ICR * SJL	MGI:5442311
cn4	Pkd1^tm1Som/Pkd1⁺ Sec63^tm1Som/Sec63^tm1Som Tg(Cdh16-cre)91Igr/0	involves: 129 * C57BL/6 * C57BL/6J * ICR * SJL	MGI:5442321
cn5	Pkd1^tm1Som/Pkd1^tm2Som Tg(Cdh16-cre/ERT2)24Igr/?	involves: 129/Sv * C57BL/6 * SJL	MGI:5430908
cx6	Pkd1^tm1Som/Pkd1⁺ Pkd2^tm2Som/Pkd2⁺	involves: 129/Sv * C57BL/6 * SJL	MGI:3795605
cx7	Pkd1^tm1Som/Pkd1⁺ Tg(Pkd1*)39Mtru/0	involves: 129/Sv * C57BL/6J * CBA/J * SJL	MGI:5546346

Allelic Composition	Pkd1^tm1Som/Pkd1^tm1Som
Genetic Background	involves: 129/Sv * C57BL/6 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkd1^tm1Som mutation (0 available); any Pkd1 mutation (154 available)

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

mortality/aging

neonatal lethality, complete penetrance ( J:78422 )

• 3 mice that are born die immediately after birth

embryonic lethality during organogenesis, incomplete penetrance ( J:78422 )

• mice begin to die at E12.5 and most are dead by E16.5

renal/urinary system

kidney cyst ( J:78422 )

• at E14.5, all surviving embryos exhibit diffuse hemorrhages

endocrine/exocrine glands

pancreas cyst ( J:78422 )

• at E14.5

cardiovascular system

cardiovascular system phenotype ( J:78422 )

N	• unlike in Pkd2^tm1Som mice, cardiac septation is normal

hemorrhage ( J:78422 )

• at E14.5, all surviving embryos exhibit diffuse hemorrhages

growth/size/body

decreased embryo size ( J:78422 )

• 3 small and pale mice are born but die immediately

pancreas cyst ( J:78422 )

• at E14.5

kidney cyst ( J:78422 )

• at E14.5, all surviving embryos exhibit diffuse hemorrhages

homeostasis/metabolism

edema ( J:78422 )

• at E14.5, all surviving embryos are edematous

embryo

decreased embryo size ( J:78422 )

• 3 small and pale mice are born but die immediately

integument

pallor ( J:78422 )

• 3 small and pale mice are born but die immediately

Allelic Composition	Pkd1^tm1Som/Pkd1⁺
Genetic Background	involves: 129/Sv * C57BL/6 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkd1^tm1Som mutation (0 available); any Pkd1 mutation (154 available)

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

renal/urinary system

kidney cyst ( J:78422 )

• one gross kidney cyst is observed at 12 months of age

growth/size/body

kidney cyst ( J:78422 )

• one gross kidney cyst is observed at 12 months of age

Allelic Composition	Pkd1^tm1Som/Pkd1⁺ Prkcsh^tm1Som/Prkcsh^tm1Som Tg(Cdh16-cre)91Igr/0
Genetic Background	involves: 129 * C57BL/6 * C57BL/6J * ICR * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkd1^tm1Som mutation (0 available); any Pkd1 mutation (154 available)
Prkcsh^tm1Som mutation (0 available); any Prkcsh mutation (27 available)
Tg(Cdh16-cre)91Igr mutation (1 available)

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

renal/urinary system

increased kidney apoptosis ( J:188763 )

• increased apoptosis in cysts compared to in cysts from Prkcsh^tm1Som/Prkcsh^tm1Som Tg(Cdh16-cre)91Igr mice

increased kidney cell proliferation ( J:188763 )

• increased cell proliferation in cysts compared to in cysts from Prkcsh^tm1Som/Prkcsh^tm1Som Tg(Cdh16-cre)91Igr mice

kidney cyst ( J:188763 )

• more severe than in Prkcsh^tm1Som/Prkcsh^tm1Som Tg(Cdh16-cre)91Igr mice

• collecting ducts form larger cysts than in Prkcsh^tm1Som/Prkcsh^tm1Som Tg(Cdh16-cre)91Igr mice

• cysts exhibit increased proliferation and apoptosis compared with cysts from Prkcsh^tm1Som/Prkcsh^tm1Som Tg(Cdh16-cre)91Igr mice

• expression Tg(Pkd2)#Som expression does not rescue cystic kidney phenotype

• however, expression of Tg(Pdk1)248Som or treatment with carfilzomib rescues cystic kidney phenotype

increased kidney weight ( J:188763 )

dilated kidney collecting duct ( J:188763 )

abnormal loop of Henle ascending limb thick segment morphology ( J:188763 )

• dilated to a lesser extent than collecting tubules

cellular

increased kidney apoptosis ( J:188763 )

• increased apoptosis in cysts compared to in cysts from Prkcsh^tm1Som/Prkcsh^tm1Som Tg(Cdh16-cre)91Igr mice

increased kidney cell proliferation ( J:188763 )

• increased cell proliferation in cysts compared to in cysts from Prkcsh^tm1Som/Prkcsh^tm1Som Tg(Cdh16-cre)91Igr mice

homeostasis/metabolism

increased blood urea nitrogen level ( J:188763 )

growth/size/body

kidney cyst ( J:188763 )

• more severe than in Prkcsh^tm1Som/Prkcsh^tm1Som Tg(Cdh16-cre)91Igr mice

• collecting ducts form larger cysts than in Prkcsh^tm1Som/Prkcsh^tm1Som Tg(Cdh16-cre)91Igr mice

• cysts exhibit increased proliferation and apoptosis compared with cysts from Prkcsh^tm1Som/Prkcsh^tm1Som Tg(Cdh16-cre)91Igr mice

• expression Tg(Pkd2)#Som expression does not rescue cystic kidney phenotype

• however, expression of Tg(Pdk1)248Som or treatment with carfilzomib rescues cystic kidney phenotype

increased kidney weight ( J:188763 )

Allelic Composition	Pkd1^tm1Som/Pkd1⁺ Sec63^tm1Som/Sec63^tm1Som Tg(Cdh16-cre)91Igr/0
Genetic Background	involves: 129 * C57BL/6 * C57BL/6J * ICR * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkd1^tm1Som mutation (0 available); any Pkd1 mutation (154 available)
Sec63^tm1Som mutation (0 available); any Sec63 mutation (40 available)
Tg(Cdh16-cre)91Igr mutation (1 available)

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

renal/urinary system

increased kidney apoptosis ( J:188763 )

• increased apoptosis in cysts compared to in cysts from Sec63^tm1Som/Sec63^tm1Som Tg(Cdh16-cre)91Igr mice

increased kidney cell proliferation ( J:188763 )

• increased cell proliferation in cysts compared to in cysts from Sec63^tm1Som/Sec63^tm1Som Tg(Cdh16-cre)91Igr mice

kidney cyst ( J:188763 )

• more severe than in Sec63^tm1Som/Sec63^tm1Som Tg(Cdh16-cre)91Igr mice

• collecting duct forms larger cysts than in Sec63^tm1Som/Sec63^tm1Som Tg(Cdh16-cre)91Igr mice

• cysts exhibit increased proliferation and apoptosis compared with cysts from Prkcsh^tm1Som/Prkcsh^tm1Som Tg(Cdh16-cre)91Igr mice

increased kidney weight ( J:188763 )

dilated kidney collecting duct ( J:188763 )

abnormal loop of Henle ascending limb thick segment morphology ( J:188763 )

• dilated to a lesser extent than collecting tubules

cellular

increased kidney apoptosis ( J:188763 )

• increased apoptosis in cysts compared to in cysts from Sec63^tm1Som/Sec63^tm1Som Tg(Cdh16-cre)91Igr mice

increased kidney cell proliferation ( J:188763 )

• increased cell proliferation in cysts compared to in cysts from Sec63^tm1Som/Sec63^tm1Som Tg(Cdh16-cre)91Igr mice

homeostasis/metabolism

increased blood urea nitrogen level ( J:188763 )

growth/size/body

kidney cyst ( J:188763 )

• more severe than in Sec63^tm1Som/Sec63^tm1Som Tg(Cdh16-cre)91Igr mice

• collecting duct forms larger cysts than in Sec63^tm1Som/Sec63^tm1Som Tg(Cdh16-cre)91Igr mice

• cysts exhibit increased proliferation and apoptosis compared with cysts from Prkcsh^tm1Som/Prkcsh^tm1Som Tg(Cdh16-cre)91Igr mice

increased kidney weight ( J:188763 )

Allelic Composition	Pkd1^tm1Som/Pkd1^tm2Som Tg(Cdh16-cre/ERT2)24Igr/?
Genetic Background	involves: 129/Sv * C57BL/6 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkd1^tm1Som mutation (0 available); any Pkd1 mutation (154 available)
Pkd1^tm2Som mutation (0 available); any Pkd1 mutation (154 available)
Tg(Cdh16-cre/ERT2)24Igr mutation (0 available)

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

cellular

abnormal mitotic spindle morphology ( J:185863 )

• loss of orientation of cell division to the lumen of the medullary collecting ducts of the kidney starts to develop after tubules begin to dilate

• no significant change in orientation of cell division to the lumen of the collecting ducts of the kidney at 3 days of age

Allelic Composition	Pkd1^tm1Som/Pkd1⁺ Pkd2^tm2Som/Pkd2⁺
Genetic Background	involves: 129/Sv * C57BL/6 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkd1^tm1Som mutation (0 available); any Pkd1 mutation (154 available)
Pkd2^tm2Som mutation (0 available); any Pkd2 mutation (85 available)

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

liver/biliary system

liver cyst ( J:78422 )

• at 12 months of age, 43% of livers exhibit cysts

• mice exhibit more cysts than in wild-type mice or either heterozygote alone

renal/urinary system

kidney cyst ( J:78422 )

• at 12 months of age, 29% of kidneys exhibit gross kidney surface cysts with only 1 observed at 9 months of age

• mice exhibit more cysts than in wild-type mice or either heterozygote alone

growth/size/body

kidney cyst ( J:78422 )

• at 12 months of age, 29% of kidneys exhibit gross kidney surface cysts with only 1 observed at 9 months of age

• mice exhibit more cysts than in wild-type mice or either heterozygote alone

liver cyst ( J:78422 )

• at 12 months of age, 43% of livers exhibit cysts

• mice exhibit more cysts than in wild-type mice or either heterozygote alone

Allelic Composition	Pkd1^tm1Som/Pkd1⁺ Tg(Pkd1*)39Mtru/0
Genetic Background	involves: 129/Sv * C57BL/6J * CBA/J * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkd1^tm1Som mutation (0 available); any Pkd1 mutation (154 available)
Tg(Pkd1*)39Mtru mutation (0 available)

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

renal/urinary system

polycystic kidney ( J:198147 )

• kidneys exhibit tubular and glomerular cysts in late adulthood similar to single Tg(Pkd1*)39Mtru mice

dilated renal tubule ( J:198147 )

• general tubular dilatations

growth/size/body

polycystic kidney ( J:198147 )

• kidneys exhibit tubular and glomerular cysts in late adulthood similar to single Tg(Pkd1*)39Mtru mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
polycystic kidney disease 1		DOID:0110858	OMIM:173900	J:198147

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