Phenotypes Associated with This Genotype

Genotype
MGI:3831332

• Allelic Composition: Nek1^kat/Nek1^kat
• Genetic Background: involves: C3HeB/FeJLe * C57BL/6J * RBF/Dn

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

premature death ( J:59839 )

• 22% survive beyond 1 year

renal/urinary system

kidney cyst ( J:37799 , J:59839 )

• 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)

kidney cortex cyst ( J:37799 , J:59839 )

polycystic kidney ( J:37799 , J:59839 )

nervous system

obstructive hydrocephaly ( J:37799 )

dilated fourth ventricle ( J:37799 )

• at 7 months of age the lateral, third, and fourth ventricles and cerebral aqueduct are dilated

dilated lateral ventricle ( J:37799 )

• at 7 months of age the lateral, third, and fourth ventricles and cerebral aqueduct are dilated

abnormal choroid plexus morphology ( J:37799 )

• at 7 months of age the choroid plexus has multiple large cysts present in the interstitium

dilated third ventricle ( J:37799 )

• at 7 months of age the lateral, third, and fourth ventricles and cerebral aqueduct are dilated

abnormal cerebral aqueduct morphology ( J:37799 )

abnormal olfactory bulb morphology ( J:37799 )

• most of the olfactory glomerular and external granular layers are absent, and in places are replaced by lacy vacuolated tissue

small olfactory bulb ( J:37799 )

• olfactory lobes are approximately half normal size

growth/size/body

short snout ( J:59839 )

shortened head ( J:59839 )

kidney cyst ( J:37799 , J:59839 )

• 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)

kidney cortex cyst ( J:37799 , J:59839 )

polycystic kidney ( J:37799 , J:59839 )

decreased body size ( J:59839 )

decreased body length ( J:59839 )

craniofacial

abnormal craniofacial morphology ( J:59839 )

• foreshortened face, particularly the snout

short snout ( J:59839 )

shortened head ( J:59839 )

hematopoietic system

anemia ( J:59839 )

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

abnormal erythrocyte osmotic lysis ( J:59839 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive polycystic kidney disease		DOID:0110861		J:37799