Phenotypes associated with this allele

• Allele Symbol: Pde1a^em2Cjwa
• Allele Name: endonuclease-mediated mutation 2, Christopher Ward
• Allele ID: MGI:6343413
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pde1a^em2Cjwa/Pde1a^em2Cjwa	C57BL/6J-Pde1a^em2Cjwa	MGI:6711712

Genotype
MGI:6711712

hm1

• Allelic Composition: Pde1a^em2Cjwa/Pde1a^em2Cjwa
• Genetic Background: C57BL/6J-Pde1a^em2Cjwa

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

renal/urinary system

kidney cyst ( J:246596 )

• mice develop mild renal cystic disease, with 6- and 12-month old mice showing small renal cysts

• mice administered desmopressin between 4 and 16 weeks of age show renal cysts which are not seen in wild-type mice

kidney cortex cyst ( J:246596 )

• small cortical cysts are seen at 12 months of age

kidney medulla cyst ( J:246596 )

• small medullary cysts are seen at 12 months of age

enlarged kidney ( J:246596 )

• kidney to body weight ratios are higher compared to wild-type mice at 12 months of age

• mice administered desmopressin between 4 and 16 weeks of age show a greater increase in kidney to body weight ratios than controls

abnormal kidney physiology ( J:246596 )

• 12-month-old mice exhibit a mild urine concentration defect after 24 hours dehydration and are able to excrete a water load faster

• renal cAMP levels tend to be higher in the kidneys but not in the hearts

• mice administered desmopressin between 4 and 16 weeks of age show a greater increase in cAMP levels compared to controls

cardiovascular system

increased cardiac muscle contractility ( J:246596 )

• mice exhibit higher left ventricle ejection fractions

abnormal heart echocardiography feature ( J:246596 )

• mice exhibit higher left ventricle ejection fractions on echocardiography

• however, no difference in left ventricle mass is seen

decreased systemic arterial blood pressure ( J:246596 )

• mice exhibit lower aortic blood pressures

growth/size/body

kidney cyst ( J:246596 )

• mice develop mild renal cystic disease, with 6- and 12-month old mice showing small renal cysts

• mice administered desmopressin between 4 and 16 weeks of age show renal cysts which are not seen in wild-type mice

kidney cortex cyst ( J:246596 )

• small cortical cysts are seen at 12 months of age

kidney medulla cyst ( J:246596 )

• small medullary cysts are seen at 12 months of age

enlarged kidney ( J:246596 )

• kidney to body weight ratios are higher compared to wild-type mice at 12 months of age

• mice administered desmopressin between 4 and 16 weeks of age show a greater increase in kidney to body weight ratios than controls

homeostasis/metabolism

abnormal enzyme/coenzyme activity ( J:246596 )

• total phosphodiesterase (PDE) and phosphodiesterase 1(PDE1) activities are reduced in the kidney

• PDE3 and PDE4 activities are increased in the kidney

muscle

increased cardiac muscle contractility ( J:246596 )

• mice exhibit higher left ventricle ejection fractions

reproductive system

reproductive system phenotype ( J:246596 )

N • males and females are fertile and litter sizes are normal