Phenotypes associated with this allele

• Allele Symbol: Nphp3^pcy
• Allele Name: polycystic kidney disease
• Allele ID: MGI:1856987
• Summary: 7 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Nphp3^pcy/Nphp3^pcy	D2.KK-Nphp3^pcy	MGI:3800130
hm2	Nphp3^pcy/Nphp3^pcy	either: D2.KK-Nphp3^pcy or (involves: DBA/2Fg * DBA/2J * KK)	MGI:3583124
hm3	Nphp3^pcy/Nphp3^pcy	involves: DBA/2Fg * KK	MGI:3583122
hm4	Nphp3^pcy/Nphp3^pcy	involves: KK	MGI:3583125
hm5	Nphp3^pcy/Nphp3^pcy	KK-Nphp3^pcy	MGI:3583121
ht6	Nphp3^pcy/Nphp3^tm1Cbe	involves: C57BL/6 * CD-1 * KK/Upj	MGI:3809288
cx7	Nphp3^pcy/Nphp3^pcy Tg(MtTGFA)42Lmb/0	involves: CD-1 * DBA/2Fg * KK	MGI:3800129

Genotype
MGI:3800130

hm1

• Allelic Composition: Nphp3^pcy/Nphp3^pcy
• Genetic Background: D2.KK-Nphp3^pcy

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

renal/urinary system

polycystic kidney ( J:129264 )

• cysts are first observed at 4 to 6.5 weeks and slowly progress over several months

enlarged kidney ( J:129264 )

• massively enlarged at 27 to 30 weeks of age

growth/size/body

polycystic kidney ( J:129264 )

• cysts are first observed at 4 to 6.5 weeks and slowly progress over several months

enlarged kidney ( J:129264 )

• massively enlarged at 27 to 30 weeks of age

Genotype
MGI:3583124

hm2

• Allelic Composition: Nphp3^pcy/Nphp3^pcy
• Genetic Background: either: D2.KK-Nphp3^pcy or (involves: DBA/2Fg * DBA/2J * KK)

mortality/aging

premature death ( J:11399 )

• mean age of death is 8.2+/-0.3 months and 6.5+/-0.1 months for males and females, respectively

renal/urinary system

kidney cyst ( J:11399 )

• 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

enlarged kidney ( J:11399 )

• by 8 weeks of age

increased kidney weight ( J:11399 )

• 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

kidney inflammation ( J:11399 )

• focal interstitial inflammatory infiltrates are seen at 18 and 30 weeks of age

dilated kidney collecting duct ( J:11399 )

• in fetal and newborn mice dilation of the collecting ducts is seen

abnormal renal glomerular capsule morphology ( J:11399 )

• focal thickening of the basement membrane is seen in Bowman's capsules

dilated renal glomerular capsule ( J:11399 )

• in fetal and newborn mice dilation of Bowman's capsule is seen

renal interstitial fibrosis ( J:11399 )

• at 18 and 30 weeks of age

abnormal renal tubule morphology ( J:11399 )

• focal thickening of the basement membrane is seen in both normal and cystic tubules

dilated distal convoluted tubule ( J:11399 )

• in fetal and newborn mice dilation of the distal tubules is seen

homeostasis/metabolism

increased blood urea nitrogen level ( J:11399 )

• blood urea nitrogen is elevated at 30 weeks but not at 8 or 18 weeks

cardiovascular system

intracranial aneurysm ( J:11399 )

• 2 out of 17 cystic mice display intracranial aneurysms

craniofacial

premature tooth eruption ( J:11399 )

• a small percentage of homozygotes display accelerated eruption of the incisors as early as 6 weeks of age

malocclusion ( J:11399 )

• early eruption of incisors caused malocclusion

skeleton

premature tooth eruption ( J:11399 )

• a small percentage of homozygotes display accelerated eruption of the incisors as early as 6 weeks of age

malocclusion ( J:11399 )

• early eruption of incisors caused malocclusion

immune system

kidney inflammation ( J:11399 )

• focal interstitial inflammatory infiltrates are seen at 18 and 30 weeks of age

growth/size/body

premature tooth eruption ( J:11399 )

• a small percentage of homozygotes display accelerated eruption of the incisors as early as 6 weeks of age

malocclusion ( J:11399 )

• early eruption of incisors caused malocclusion

kidney cyst ( J:11399 )

• 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

enlarged kidney ( J:11399 )

• by 8 weeks of age

increased kidney weight ( J:11399 )

• 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: Nphp3^pcy/Nphp3^pcy
• Genetic Background: involves: DBA/2Fg * KK

renal/urinary system

kidney cyst ( J:2203 )

• at 120 days of age extensive cyst growth is seen

enlarged kidney ( J:2203 )

• at 120 days of age kidneys are 4-times larger than wild-type controls

homeostasis/metabolism

abnormal cholesterol homeostasis ( J:2203 )

• the kidney ratio of cholesterol to phospholipid is elevated; however the kidney total cholesterol level is not significantly different from wild-type

increased circulating cholesterol level ( J:2203 )

• at 120 days of age total serum cholesterol levels are elevated

abnormal phospholipid level ( J:2203 )

• 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

abnormal circulating phospholipid level ( J:2203 )

• 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

kidney cyst ( J:2203 )

• at 120 days of age extensive cyst growth is seen

enlarged kidney ( J:2203 )

• at 120 days of age kidneys are 4-times larger than wild-type controls

Genotype
MGI:3583125

hm4

• Allelic Composition: Nphp3^pcy/Nphp3^pcy
• Genetic Background: involves: KK

renal/urinary system

kidney cyst ( J:91453 )

polycystic kidney ( J:244067 )

• 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

kidney cyst ( J:91453 )

polycystic kidney ( J:244067 )

• 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

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal dominant polycystic kidney disease		DOID:898		J:244067
nephronophthisis 3		DOID:0111114	OMIM:604387	J:91453

Genotype
MGI:3583121

hm5

• Allelic Composition: Nphp3^pcy/Nphp3^pcy
• Genetic Background: KK-Nphp3^pcy

mortality/aging

premature death ( J:8302 )

• mean life span is about 186 days with a few homozygotes living to 9 months of age

renal/urinary system

kidney cyst ( J:8302 )

• 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

enlarged kidney ( J:8302 )

• visible at 3 months of age and in 25 weeks old homozygotes the kidneys occupy almost the entire abdominal cavity

increased kidney weight ( J:8302 )

• 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

kidney inflammation ( J:8302 )

• 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

increased blood urea nitrogen level ( J:8302 )

• by 15 weeks of age

hematopoietic system

anemia ( J:8302 )

• 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

lethargy ( J:8302 )

• seen around 4 months of age

tremors ( J:8302 )

• seen around 4 months of age

growth/size/body

kidney cyst ( J:8302 )

• 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

distended abdomen ( J:8302 )

• seen at 3 months of age

enlarged kidney ( J:8302 )

• visible at 3 months of age and in 25 weeks old homozygotes the kidneys occupy almost the entire abdominal cavity

increased kidney weight ( J:8302 )

• 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

kidney inflammation ( J:8302 )

• 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: Nphp3^pcy/Nphp3^tm1Cbe
• Genetic Background: involves: C57BL/6 * CD-1 * KK/Upj

renal/urinary system

abnormal renal tubule epithelial cell primary cilium morphology ( J:139258 )

• epithelial cells have longer monocilia in dilated kidney tubules

kidney cyst ( J:139258 )

• seen as early as 4 weeks after birth

• progressive increase in cyst size and number with age

• present in all mice

dilated renal tubule ( J:139258 )

cellular

abnormal renal tubule epithelial cell primary cilium morphology ( J:139258 )

• epithelial cells have longer monocilia in dilated kidney tubules

growth/size/body

kidney cyst ( J:139258 )

• 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: Nphp3^pcy/Nphp3^pcy; Tg(MtTGFA)42Lmb/0
• Genetic Background: involves: CD-1 * DBA/2Fg * KK

renal/urinary system

polycystic kidney ( J:129264 )

• 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 Nphp3^pcy homozygotes

enlarged kidney ( J:129264 )

• at 8.5 weeks, kidney size is increased compared to in wild-type mice and Nphp3^pcy homozygotes

growth/size/body

polycystic kidney ( J:129264 )

• 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 Nphp3^pcy homozygotes

enlarged kidney ( J:129264 )

• at 8.5 weeks, kidney size is increased compared to in wild-type mice and Nphp3^pcy homozygotes