Mouse Genome Informatics
hm
    Nek1kat/Nek1kat
involves: C3HeB/FeJLe * C57BL/6J * RBF/Dn
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• 22% survive beyond 1 year

renal/urinary system
• bilateral polycystic kidney disease with a progressive increase in the number and size of cysts in the kidney cortex, with slower progression than in kat-2J homozygotes (J:37799)
• cysts seem to be dilated proximal tubules and Bowman spaces (J:37799)

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

growth/size

craniofacial
• foreshortened face, particularly the snout

hematopoietic system
• hematocrit is slightly reduced in many young homozygotes and falls progressively after 200 days of age

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