Phenotypes associated with this allele

• Allele Symbol: Wwtr1^tm1Whun
• Allele Name: targeted mutation 1, Walter Hunziker
• Allele ID: MGI:3702742
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Wwtr1^tm1Whun/Wwtr1^tm1Whun	either: (involves: 129S6/SvEvTac) or (involves: 129S6/SvEvTac * C57BL/6)	MGI:3703807

Genotype
MGI:3703807

hm1

• Allelic Composition: Wwtr1^tm1Whun/Wwtr1^tm1Whun
• Genetic Background: either: (involves: 129S6/SvEvTac) or (involves: 129S6/SvEvTac * C57BL/6)

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

Gross anatomy of skeleton and renal histology of Wwtr1^tm1Whun/Wwtr1^tm1Whun mice

mortality/aging

premature death ( J:119488 )

• shortened lifespan of 10-12 months compared to herterozygotes and wild-type mice

preweaning lethality, incomplete penetrance ( J:119488 )

• 35-50% of homozygous nulls die by the age of weaning of unknown cause

• however, the rest reached adulthood

renal/urinary system

kidney cyst ( J:119488 )

• at 8 weeks of age multiple cysts are observed at, predominantly at the cortico-medullary boundary

• most cysts arise from glomerular tissue (66%) with smaller fractions originating from collecting ducts (11%) and proximal (3%) and distal (4%) tubules, and the rest (16%) being of unknown origin

• severity and progression of cysts are variable but cysts increase in number and size with age

• largest cysts are found in the juxtamedullary region

• fewer cells lining cysts have cilia and the remaining cilia are shorter with structural defects

kidney corticomedullary cyst ( J:119488 )

• at 8 weeks of age multiple cysts are observed at, predominantly at the cortico-medullary boundary

enlarged kidney ( J:119488 )

increased glomerular capsule space ( J:119488 )

• around E15.5 dilation of Bowman's space between visceral podocytes and the parietal cell layer of Bowman's capsule occurs

• by E16.5, dilation results in degeneration of glomerular morphology, atrophy of tufts, and cyst formation

renal glomerulus atrophy ( J:119488 )

• by E16.5, dilation results in atrophy of capillary tufts

renal interstitial fibrosis ( J:119488 )

abnormal renal tubule morphology ( J:119488 )

• parietal and tubular basement membrane thickening, thinning and folding

abnormal renal tubule epithelial cell primary cilium morphology ( J:119488 )

• significantly fewer cells lining dilated or cystic ducts are ciliated

• cilia facing dilated tubules or cysts are often short with apparent structural defects

tubular nephritis ( J:119488 )

dilated renal tubule ( J:119488 )

• dilation observed by E16.5

• by P9, both proximal and distal tubules are affected

• fewer cells lining dilated tubules have cilia and the remaining cilia are shorter with structural defects

dilated distal convoluted tubule ( J:119488 )

• by P9, both proximal and distal tubules are affected

dilated proximal convoluted tubule ( J:119488 )

• by P9, both proximal and distal tubules are affected

pale kidney ( J:119488 )

• anemic kidney

kidney failure ( J:119488 )

• progressive deterioration of renal function

homeostasis/metabolism

increased blood urea nitrogen level ( J:119488 )

• 2-fold higher blood nitrogen urea in 4- to 6- month old nulls compared to heterozygous and wild-type

growth/size/body

decreased body weight ( J:119488 )

kidney cyst ( J:119488 )

• at 8 weeks of age multiple cysts are observed at, predominantly at the cortico-medullary boundary

• most cysts arise from glomerular tissue (66%) with smaller fractions originating from collecting ducts (11%) and proximal (3%) and distal (4%) tubules, and the rest (16%) being of unknown origin

• severity and progression of cysts are variable but cysts increase in number and size with age

• largest cysts are found in the juxtamedullary region

• fewer cells lining cysts have cilia and the remaining cilia are shorter with structural defects

kidney corticomedullary cyst ( J:119488 )

• at 8 weeks of age multiple cysts are observed at, predominantly at the cortico-medullary boundary

decreased body height ( J:119488 )

• slightly smaller stature

enlarged kidney ( J:119488 )

reproductive system

decreased litter size ( J:119488 )

skeleton

abnormal skeleton morphology ( J:119488 )

• minor skeletal anomalies

abnormal bone ossification ( J:119488 )

• minor anomalies in ossification

immune system

tubular nephritis ( J:119488 )

cellular

abnormal renal tubule epithelial cell primary cilium morphology ( J:119488 )

• significantly fewer cells lining dilated or cystic ducts are ciliated

• cilia facing dilated tubules or cysts are often short with apparent structural defects

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
nephronophthisis		DOID:12712	OMIM:PS256100	J:119488