Mouse Genome Informatics
hm
    Nek1kat-2J/Nek1kat-2J
C57BL/6J-Nek1kat-2J/J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• 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 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
• 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
• 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 (J:37799)

craniofacial
• foreshortened face, particularly the snout

reproductive system
• at all ages assessed (J:37799)
• less than normal level of spermatogenesis as assessed histologically (J:59839)
• female homozygotes occassionally breed and have morphologically normal ovaries (J:37799)
• males are sterile (J:37799)

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

homeostasis/metabolism
• marked by 7 months of age

Mouse Models of Human Disease
OMIM IDRef(s)
Polycystic Kidney Disease, Autosomal Recessive; ARPKD 263200 J:37799