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Phenotypes Associated with This Genotype
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nek1kat-2J mutation (1 available); any Nek1 mutation (6 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
• all homozygotes die by 1 year of age with a median survival of 211 days

renal/urinary system
• bilateral polycystic kidney disease with a progressive increase in the number and size of cysts in the kidney cortex, with faster progression than in kat homozygotes
• cysts seem to be dilated proximal tubules and Bowman spaces
• bilateral and symmetrical with similar exression in females and males until 6 months of age when cystic lesions advance more rapidly in femaeles (J:59839)
• at 5 days of age no cycsts are found, but by 1 month of age small clusters of glomerular cysts are found with dilated proximal tubules lined by eosinophilic epithelium with a brush border and cysts lined with cuboidal or flat epithelium (J:59839)
• with age much of the renal cortex is replaced by variably sized cysts at all levels of the nephron and the medullary tubules are dilated (J:59839)

nervous system
• at 7 months of age the lateral, third, and fourth ventricles and cerebral aqueduct are dilated
• at 7 months of age the lateral, third, and fourth ventricles and cerebral aqueduct are dilated
• at 7 months of age the choroid plexus has multiple large cysts present in the interstitium
• at 7 months of age the lateral, third, and fourth ventricles and cerebral aqueduct are dilated
• most of the olfactory glomerular and external granular layers are absent, and in places are replaced by lacy vacuolated tissue
• olfactory lobes are approximately half normal size

endocrine/exocrine glands
• at all ages assessed

• foreshortened face, particularly the snout

reproductive system
• at all ages assessed
• less than normal level of spermatogenesis as assessed histologically
• female homozygotes occassionally breed and have morphologically normal ovaries
• males are sterile

• runts at birth
• although homozygotes gain weight with age, thay are consistently smaller than controls throughout their lives and have abdominal distention from the enlarged kidneys

hematopoietic system
• hematocrit falls progressively as homozygotes age and many are anemic before they are weaned (J:59839)
• marked by 7 to 8 months of age

• marked by 7 months of age

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
autosomal recessive polycystic kidney disease DOID:0110861 OMIM:263200

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
MGI 6.14
The Jackson Laboratory