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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Pde1aem1Cjwa
endonuclease-mediated mutation 1, Christopher Ward
MGI:6343412
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Pde1aem1Cjwa/Pde1aem1Cjwa C57BL/6J-Pde1aem1Cjwa MGI:6711710
cx2
Pde1aem1Cjwa/Pde1aem1Cjwa
Pkd2tm1Som/Pkd2tm2Som
involves: 129 * C57BL/6J * C57BL/6N * SJL MGI:6711716


Genotype
MGI:6711710
hm1
Allelic
Composition
Pde1aem1Cjwa/Pde1aem1Cjwa
Genetic
Background
C57BL/6J-Pde1aem1Cjwa
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pde1aem1Cjwa mutation (0 available); any Pde1a mutation (32 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system
• mice develop mild renal cystic disease, with 6- and 12-month old mice showing small renal cysts
• small cortical cysts are seen at 12 months of age
• small medullary cysts are seen at 12 months of age
• kidney to body weight ratios are higher compared to wild-type mice at 12 months of age
• 12-month-old mice exhibit a mild urine concentration defect after 24 hours of 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

cardiovascular system
• mice exhibit higher left ventricle ejection fractions
• mice exhibit higher left ventricle ejection fractions on echocardiography
• however, no difference in left ventricle mass is seen
• mice exhibit lower aortic blood pressures

growth/size/body
• mice develop mild renal cystic disease, with 6- and 12-month old mice showing small renal cysts
• small cortical cysts are seen at 12 months of age
• small medullary cysts are seen at 12 months of age
• kidney to body weight ratios are higher compared to wild-type mice at 12 months of age

homeostasis/metabolism
• total phosphodiesterase (PDE) and phosphodiesterase 1(PDE1) activities are reduced in the kidney
• PDE3 and PDE4 activities are increased in the kidney

muscle
• mice exhibit higher left ventricle ejection fractions

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




Genotype
MGI:6711716
cx2
Allelic
Composition
Pde1aem1Cjwa/Pde1aem1Cjwa
Pkd2tm1Som/Pkd2tm2Som
Genetic
Background
involves: 129 * C57BL/6J * C57BL/6N * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pde1aem1Cjwa mutation (0 available); any Pde1a mutation (32 available)
Pkd2tm1Som mutation (0 available); any Pkd2 mutation (85 available)
Pkd2tm2Som mutation (0 available); any Pkd2 mutation (85 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system
• administration of desmopressin aggravates the renal cystic disease seen in Pkd2tm1Som/Pkd2tm2Som mice

growth/size/body
• administration of desmopressin aggravates the renal cystic disease seen in Pkd2tm1Som/Pkd2tm2Som mice





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last database update
10/29/2024
MGI 6.24
The Jackson Laboratory