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Phenotypes Associated with This Genotype
Genotype
MGI:3831332
Allelic
Composition
Nek1kat/Nek1kat
Genetic
Background
involves: C3HeB/FeJLe * C57BL/6J * RBF/Dn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nek1kat mutation (1 available); any Nek1 mutation (50 available)
phenotype observed in females
phenotype observed in males
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 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

growth/size/body

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
DO ID OMIM ID(s) Ref(s)
autosomal recessive polycystic kidney disease DOID:0110861 OMIM:263200
J:37799


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
12/05/2017
MGI 6.11
The Jackson Laboratory