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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Wwtr1tm1Whun
targeted mutation 1, Walter Hunziker
MGI:3702742
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Wwtr1tm1Whun/Wwtr1tm1Whun either: (involves: 129S6/SvEvTac) or (involves: 129S6/SvEvTac * C57BL/6) MGI:3703807


Genotype
MGI:3703807
hm1
Allelic
Composition
Wwtr1tm1Whun/Wwtr1tm1Whun
Genetic
Background
either: (involves: 129S6/SvEvTac) or (involves: 129S6/SvEvTac * C57BL/6)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Wwtr1tm1Whun mutation (0 available); any Wwtr1 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Gross anatomy of skeleton and renal histology of Wwtr1tm1Whun/Wwtr1tm1Whun mice

mortality/aging
• shortened lifespan of 10-12 months compared to herterozygotes and wild-type mice
• 35-50% of homozygous nulls die by the age of weaning of unknown cause
• however, the rest reached adulthood

renal/urinary system
• 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
• at 8 weeks of age multiple cysts are observed at, predominantly at the cortico-medullary boundary
• 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
• by E16.5, dilation results in atrophy of capillary tufts
• parietal and tubular basement membrane thickening, thinning and folding
• significantly fewer cells lining dilated or cystic ducts are ciliated
• cilia facing dilated tubules or cysts are often short with apparent structural defects
• 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
• by P9, both proximal and distal tubules are affected
• by P9, both proximal and distal tubules are affected
• anemic kidney
• progressive deterioration of renal function

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

growth/size/body
• 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
• at 8 weeks of age multiple cysts are observed at, predominantly at the cortico-medullary boundary
• slightly smaller stature

reproductive system

skeleton
• minor skeletal anomalies
• minor anomalies in ossification

immune system

cellular
• 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





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
06/23/2022
MGI 6.20
The Jackson Laboratory