All Phenotypes Prkcsh<tm1Som> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Prkcsh^tm1Som
targeted mutation 1, Stefan Somlo
MGI:5442170

Summary

6 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Prkcsh^tm1Som/Prkcsh^tm1Som Tg(CAG-cre/Esr1*)1Lbe/0	involves: 129 * 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:5442315
cn2	Pkd1^tm1Som/Pkd1⁺ Prkcsh^tm1Som/Prkcsh^tm1Som Tg(Cdh16-cre)91Igr/0	involves: 129 * C57BL/6 * C57BL/6J * ICR * SJL	MGI:5442311
cn3	Pkd2^tm2Som/Pkd2⁺ Prkcsh^tm1Som/Prkcsh^tm1Som Tg(Cdh16-cre)91Igr/0	involves: 129 * C57BL/6 * C57BL/6J * ICR * SJL	MGI:5442313
cn4	Prkcsh^tm1Som/Prkcsh^tm1Som Tg(Pkd1)248Som/0 Tg(Cdh16-cre)91Igr/0	involves: 129 * C57BL/6 * C57BL/6J * ICR * SJL/J	MGI:5442310
cn5	Prkcsh^tm1Som/Prkcsh^tm1Som Tg(Cdh16-cre)91Igr/0	involves: 129 * C57BL/6 * ICR	MGI:5442308
cn6	Prkcsh^tm1Som/Prkcsh^tm1Som Sec63^tm1.1Som/Sec63^tm1.1Som Tg(Cdh16-cre)91Igr/0	involves: 129 * C57BL/6 * ICR	MGI:5442317

Allelic Composition	Prkcsh^tm1Som/Prkcsh^tm1Som Tg(CAG-cre/Esr1*)1Lbe/0
Genetic Background	involves: 129 * 129S1/Sv * 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prkcsh^tm1Som mutation (0 available); any Prkcsh mutation (27 available)
Tg(CAG-cre/Esr1*)1Lbe mutation (0 available)

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

mortality/aging

premature death ( J:188763 )

• in mice treated with a high does tamoxifen induction regime

liver/biliary system

liver cyst ( J:188763 )

• bile duct-derived cysts in the liver beginning at P28 in tamoxifen-treated mice

• severe by 4 to 5 months in tamoxifen-treated mice

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

• however, expression of Tg(Pdk1)248Som rescues cystic liver phenotype

growth/size/body

liver cyst ( J:188763 )

• bile duct-derived cysts in the liver beginning at P28 in tamoxifen-treated mice

• severe by 4 to 5 months in tamoxifen-treated mice

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

• however, expression of Tg(Pdk1)248Som rescues cystic liver phenotype

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
polycystic liver disease		DOID:0050770		J:188763

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	Pkd2^tm2Som/Pkd2⁺ 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:
Pkd2^tm2Som mutation (0 available); any Pkd2 mutation (85 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

kidney cyst ( J:188763 )

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

increased kidney weight ( J:188763 )

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

increased kidney weight ( J:188763 )

Allelic Composition	Prkcsh^tm1Som/Prkcsh^tm1Som Tg(Pkd1)248Som/0 Tg(Cdh16-cre)91Igr/0
Genetic Background	involves: 129 * C57BL/6 * C57BL/6J * ICR * SJL/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prkcsh^tm1Som mutation (0 available); any Prkcsh mutation (27 available)
Tg(Cdh16-cre)91Igr mutation (1 available)
Tg(Pkd1)248Som mutation (0 available)

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

renal/urinary system

kidney cyst ( J:188763 )

• mild at 6 months

dilated renal tubule ( J:188763 )

• mild at 6 months

growth/size/body

kidney cyst ( J:188763 )

• mild at 6 months

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
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

mortality/aging

premature death ( J:188763 )

• by 6 months associated with kidney cysts

renal/urinary system

kidney cyst ( J:188763 )

• mild at P28, advanced at 3 months and severe at 6 months

• collecting ducts form large cysts

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

• however, expression of Tg(Pdk1)248Som slows development of cystic kidney phenotype

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

growth/size/body

kidney cyst ( J:188763 )

• mild at P28, advanced at 3 months and severe at 6 months

• collecting ducts form large cysts

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

• however, expression of Tg(Pdk1)248Som slows development of cystic kidney phenotype

Allelic Composition	Prkcsh^tm1Som/Prkcsh^tm1Som Sec63^tm1.1Som/Sec63^tm1.1Som Tg(Cdh16-cre)91Igr/0
Genetic Background	involves: 129 * C57BL/6 * ICR

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prkcsh^tm1Som mutation (0 available); any Prkcsh mutation (27 available)
Sec63^tm1.1Som 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

liver/biliary system

liver cyst ( J:188763 )

• more severe than in either single conditional knock-outs

growth/size/body

liver cyst ( J:188763 )

• more severe than in either single conditional knock-outs

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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