Phenotypes associated with this allele

• Allele Symbol: Pkd1^tm1Shh
• Allele Name: targeted mutation 1, Shigeo Horie
• Allele ID: MGI:2183431
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pkd1^tm1Shh/Pkd1^tm1Shh	involves: 129P2/OlaHsd * C57BL/6J	MGI:6513988
ht2	Pkd1^tm1Shh/Pkd1^tm1.1Pcha	involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6	MGI:5476837

Genotype
MGI:6513988

hm1

• Allelic Composition: Pkd1^tm1Shh/Pkd1^tm1Shh
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

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

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:77927 )

• most mice are dead by E18.5

• however, maternal treatment with pioglitazone improves survival and overall phenotype

cardiovascular system

double outlet right ventricle ( J:77927 )

renal/urinary system

kidney cyst ( J:77927 )

integument

skin edema ( J:77927 )

homeostasis/metabolism

skin edema ( J:77927 )

growth/size/body

kidney cyst ( J:77927 )

Genotype
MGI:5476837

ht2

• Allelic Composition: Pkd1^tm1Shh/Pkd1^tm1.1Pcha
• Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6

Pkd1^tm1.1Pcha/Pkd1^tm1Shh mice show early-onset and rapidly progressive cystic disease

mortality/aging

premature death ( J:193544 )

• beginning at P20

• median survival at P28

• most mice die by P50

renal/urinary system

increased kidney epithelial cell primary cilium length ( J:193544 )

• elongated collecting duct primary cilia at P25 and 12 months

polycystic kidney ( J:193544 )

• as early as E15.5, progressively worsening over time

• at P1, cysts arise primarily from the proximal tubule

• at P25, cysts arise primarily from the collecting duct

enlarged kidney ( J:193544 )

• at P1

increased kidney weight ( J:193544 )

• at P1, increasing with time

renal fibrosis ( J:193544 )

• increases over time

kidney failure ( J:193544 )

• associated with death

skeleton

decreased bone mineral density ( J:193544 )

decreased compact bone mass ( J:193544 )

• at male and female mice at P25

decreased trabecular bone mass ( J:193544 )

• at male and female mice at P25

cardiovascular system

thick myocardium ( J:193544 )

• in the left ventricle

heart left ventricle hypertrophy ( J:193544 )

increased heart weight ( J:193544 )

cellular

increased kidney epithelial cell primary cilium length ( J:193544 )

• elongated collecting duct primary cilia at P25 and 12 months

increased cell proliferation ( J:193544 )

• in kidney cysts and non-dilated tubules

homeostasis/metabolism

uremia ( J:193544 )

• at P12

increased blood urea nitrogen level ( J:193544 )

• at P12 and P25

endocrine/exocrine glands

increased activity of parathyroid ( J:193544 )

• secondary

growth/size/body

heart left ventricle hypertrophy ( J:193544 )

increased heart weight ( J:193544 )

polycystic kidney ( J:193544 )

• as early as E15.5, progressively worsening over time

• at P1, cysts arise primarily from the proximal tubule

• at P25, cysts arise primarily from the collecting duct

enlarged kidney ( J:193544 )

• at P1

increased kidney weight ( J:193544 )

• at P1, increasing with time

muscle

thick myocardium ( J:193544 )

• in the left ventricle

heart left ventricle hypertrophy ( J:193544 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
polycystic kidney disease 1		DOID:0110858	OMIM:173900	J:193544