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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Nphp3pcy
polycystic kidney disease
MGI:1856987
Summary 7 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Nphp3pcy/Nphp3pcy D2.KK-Nphp3pcy MGI:3800130
hm2
Nphp3pcy/Nphp3pcy either: D2.KK-Nphp3pcy or (involves: DBA/2Fg * DBA/2J * KK) MGI:3583124
hm3
Nphp3pcy/Nphp3pcy involves: DBA/2Fg * KK MGI:3583122
hm4
Nphp3pcy/Nphp3pcy involves: KK MGI:3583125
hm5
Nphp3pcy/Nphp3pcy KK-Nphp3pcy MGI:3583121
ht6
Nphp3pcy/Nphp3tm1Cbe involves: C57BL/6 * CD-1 * KK/Upj MGI:3809288
cx7
Nphp3pcy/Nphp3pcy
Tg(MtTGFA)42Lmb/0
involves: CD-1 * DBA/2Fg * KK MGI:3800129


Genotype
MGI:3800130
hm1
Allelic
Composition
Nphp3pcy/Nphp3pcy
Genetic
Background
D2.KK-Nphp3pcy
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nphp3pcy mutation (0 available); any Nphp3 mutation (77 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
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




Genotype
MGI:3583124
hm2
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)
phenotype observed in females
phenotype observed in males
N normal phenotype
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
• by 8 weeks of age
• 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
• blood urea nitrogen is elevated at 30 weeks but not at 8 or 18 weeks

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
• by 8 weeks of age
• 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

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
autosomal dominant polycystic kidney disease DOID:898 J:11399




Genotype
MGI:3583122
hm3
Allelic
Composition
Nphp3pcy/Nphp3pcy
Genetic
Background
involves: DBA/2Fg * KK
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nphp3pcy mutation (0 available); any Nphp3 mutation (77 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
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
• the kidney ratio of cholesterol to phospholipid is elevated; however the kidney total cholesterol level is not significantly different from wild-type
• at 120 days of age total serum cholesterol levels are elevated
• the kidney ratio of cholesterol to phospholipid is elevated; however the kidney total phospholipid level is not significantly different from wild-type
• the kidney choline glycerophospholipid/ethanolamine glycerophospholipid ratio as well as the general ether phospholipid content is elevated and the docosahexaenoic acid level is decreased similar to changes often seen in neoplastic cells
• at 120 days of age total serum phospholipid levels are elevated
• the kidney ratio of cholesterol to phospholipid is elevated; however the kidney total phospholipid level is not significantly different from wild-type

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




Genotype
MGI:3583125
hm4
Allelic
Composition
Nphp3pcy/Nphp3pcy
Genetic
Background
involves: KK
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nphp3pcy mutation (0 available); any Nphp3 mutation (77 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
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




Genotype
MGI:3583121
hm5
Allelic
Composition
Nphp3pcy/Nphp3pcy
Genetic
Background
KK-Nphp3pcy
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nphp3pcy mutation (0 available); any Nphp3 mutation (77 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
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
• by 15 weeks of age

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

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
autosomal dominant polycystic kidney disease DOID:898 J:8302




Genotype
MGI:3809288
ht6
Allelic
Composition
Nphp3pcy/Nphp3tm1Cbe
Genetic
Background
involves: C57BL/6 * CD-1 * KK/Upj
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)
phenotype observed in females
phenotype observed in males
N normal phenotype
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

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
nephronophthisis 3 DOID:0111114 OMIM:604387
J:139258




Genotype
MGI:3800129
cx7
Allelic
Composition
Nphp3pcy/Nphp3pcy
Tg(MtTGFA)42Lmb/0
Genetic
Background
involves: CD-1 * DBA/2Fg * KK
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)
phenotype observed in females
phenotype observed in males
N normal phenotype
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





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last database update
03/12/2024
MGI 6.23
The Jackson Laboratory