Phenotypes associated with this allele
|
Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nphp3pcy mutation
(0 available);
any
Nphp3 mutation
(77 available)
|
|
|
renal/urinary system
|
• cysts are first observed at 4 to 6.5 weeks and slowly progress over several months
|
|
• massively enlarged at 27 to 30 weeks of age
|
growth/size/body
|
• cysts are first observed at 4 to 6.5 weeks and slowly progress over several months
|
|
• massively enlarged at 27 to 30 weeks of age
|
Allelic Composition |
Nphp3pcy/Nphp3pcy
|
|
Genetic Background |
either: D2.KK-Nphp3pcy or (involves: DBA/2Fg * DBA/2J * KK) |
|
Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nphp3pcy mutation
(0 available);
any
Nphp3 mutation
(77 available)
|
|
|
mortality/aging
|
• mean age of death is 8.2+/-0.3 months and 6.5+/-0.1 months for males and females, respectively
|
renal/urinary system
|
• at 4 weeks of age well-formed cysts are seen in the outer portion of the inner medulla involving proximal and distal tubules and collecting ducts
• at 30 weeks cysts dominate the kidney and kidneys have a slightly cobblestone-like appearance; however no hepatic cysts or heart valve abnormalities are seen
|
|
• at 18 weeks of age kidney weight is 1.95+/-0.05 g compared to 0.66+/-0.05 g in controls; however no difference in total body weight is seen
|
|
• focal interstitial inflammatory infiltrates are seen at 18 and 30 weeks of age
|
|
• in fetal and newborn mice dilation of the collecting ducts is seen
|
|
• focal thickening of the basement membrane is seen in Bowman's capsules
|
|
• in fetal and newborn mice dilation of Bowman's capsule is seen
|
|
• at 18 and 30 weeks of age
|
|
• focal thickening of the basement membrane is seen in both normal and cystic tubules
|
|
• in fetal and newborn mice dilation of the distal tubules is seen
|
homeostasis/metabolism
cardiovascular system
|
• 2 out of 17 cystic mice display intracranial aneurysms
|
craniofacial
|
• a small percentage of homozygotes display accelerated eruption of the incisors as early as 6 weeks of age
|
|
• early eruption of incisors caused malocclusion
|
skeleton
|
• a small percentage of homozygotes display accelerated eruption of the incisors as early as 6 weeks of age
|
|
• early eruption of incisors caused malocclusion
|
immune system
|
• focal interstitial inflammatory infiltrates are seen at 18 and 30 weeks of age
|
growth/size/body
|
• a small percentage of homozygotes display accelerated eruption of the incisors as early as 6 weeks of age
|
|
• early eruption of incisors caused malocclusion
|
|
• at 4 weeks of age well-formed cysts are seen in the outer portion of the inner medulla involving proximal and distal tubules and collecting ducts
• at 30 weeks cysts dominate the kidney and kidneys have a slightly cobblestone-like appearance; however no hepatic cysts or heart valve abnormalities are seen
|
|
• at 18 weeks of age kidney weight is 1.95+/-0.05 g compared to 0.66+/-0.05 g in controls; however no difference in total body weight is seen
|
|
Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nphp3pcy mutation
(0 available);
any
Nphp3 mutation
(77 available)
|
|
|
renal/urinary system
|
• at 120 days of age extensive cyst growth is seen
|
|
• at 120 days of age kidneys are 4-times larger than wild-type controls
|
homeostasis/metabolism
growth/size/body
|
• at 120 days of age extensive cyst growth is seen
|
|
• at 120 days of age kidneys are 4-times larger than wild-type controls
|
|
Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nphp3pcy mutation
(0 available);
any
Nphp3 mutation
(77 available)
|
|
|
renal/urinary system
|
• mice exhibit slow development of kidney cysts
• mice treated with an anti-miR-17 oligonucleotide show reduced kidney weight-to-body weight ratio and cyst index
|
growth/size/body
|
• mice exhibit slow development of kidney cysts
• mice treated with an anti-miR-17 oligonucleotide show reduced kidney weight-to-body weight ratio and cyst index
|
|
Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nphp3pcy mutation
(0 available);
any
Nphp3 mutation
(77 available)
|
|
|
mortality/aging
|
• mean life span is about 186 days with a few homozygotes living to 9 months of age
|
renal/urinary system
|
• in newborns small cyst-like features are seen including distension of Bowman's capsules, proximal convoluted tubules, distal convoluted tubules, and collecting tubules
• by 25 weeks the cysts are seen on the surface of the kidney and in sections are seen in both the cortex and medulla distorting the cortico-medullary junction; however, no cysts are seen in the liver, pancreas, or lungs
|
|
• visible at 3 months of age and in 25 weeks old homozygotes the kidneys occupy almost the entire abdominal cavity
|
|
• average kidneys weight at 25 weeks of age is 3.69+/-0.59 g and 3.35+/-0.31 g in males and females, respectively, compared to 0.35+/-0.01 g in control mice
|
|
• around cysts in the distal convoluted tubules focal fibrotic areas with chronic inflammatory infiltrates are seen; however neither papillary necrosis nor amyloidosis are seen
|
homeostasis/metabolism
hematopoietic system
|
• average kidneys weight at 25 weeks of age is 3.69+/-0.59 g and 3.35+/-0.31 g in males and females, respectively, compared to 0.35+/-0.01 g in control mice
|
behavior/neurological
|
• seen around 4 months of age
|
|
• seen around 4 months of age
|
growth/size/body
|
• in newborns small cyst-like features are seen including distension of Bowman's capsules, proximal convoluted tubules, distal convoluted tubules, and collecting tubules
• by 25 weeks the cysts are seen on the surface of the kidney and in sections are seen in both the cortex and medulla distorting the cortico-medullary junction; however, no cysts are seen in the liver, pancreas, or lungs
|
|
• seen at 3 months of age
|
|
• visible at 3 months of age and in 25 weeks old homozygotes the kidneys occupy almost the entire abdominal cavity
|
|
• average kidneys weight at 25 weeks of age is 3.69+/-0.59 g and 3.35+/-0.31 g in males and females, respectively, compared to 0.35+/-0.01 g in control mice
|
immune system
|
• around cysts in the distal convoluted tubules focal fibrotic areas with chronic inflammatory infiltrates are seen; however neither papillary necrosis nor amyloidosis are seen
|
|
Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nphp3pcy mutation
(0 available);
any
Nphp3 mutation
(77 available)
Nphp3tm1Cbe mutation
(0 available);
any
Nphp3 mutation
(77 available)
|
|
|
renal/urinary system
|
• epithelial cells have longer monocilia in dilated kidney tubules
|
|
• seen as early as 4 weeks after birth
• progressive increase in cyst size and number with age
• present in all mice
|
cellular
|
• epithelial cells have longer monocilia in dilated kidney tubules
|
growth/size/body
|
• seen as early as 4 weeks after birth
• progressive increase in cyst size and number with age
• present in all mice
|
|
Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nphp3pcy mutation
(0 available);
any
Nphp3 mutation
(77 available)
Tg(MtTGFA)42Lmb mutation
(2 available)
|
|
|
renal/urinary system
|
• cysts are first observed in mice supplemented with zinc at 4 to 6.5 weeks and progresses
• at 8.5 weeks, cyst size is larger than in wild-type mice and Nphp3pcy homozygotes
|
|
• at 8.5 weeks, kidney size is increased compared to in wild-type mice and Nphp3pcy homozygotes
|
growth/size/body
|
• cysts are first observed in mice supplemented with zinc at 4 to 6.5 weeks and progresses
• at 8.5 weeks, cyst size is larger than in wild-type mice and Nphp3pcy homozygotes
|
|
• at 8.5 weeks, kidney size is increased compared to in wild-type mice and Nphp3pcy homozygotes
|