Phenotypes Associated with This Genotype

Genotype
MGI:3831388

• Allelic Composition: Nek1^kat-2J/Nek1^kat-2J
• Genetic Background: C57BL/6J-Nek1^kat-2J/J

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

mortality/aging

premature death ( J:59839 )

• all homozygotes die by 1 year of age with a median survival of 211 days

renal/urinary system

kidney cyst ( J:37799 )

• 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

kidney cortex cyst ( J:37799 )

polycystic kidney ( J:37799 , J:59839 )

• 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)

abnormal renal tubule morphology ( J:134248 )

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

endocrine/exocrine glands

small testis ( J:37799 )

♂ • at all ages assessed

testis hypoplasia ( J:59839 )

♂

craniofacial

abnormal craniofacial morphology ( J:37799 )

• foreshortened face, particularly the snout

short snout ( J:37799 , J:59839 )

shortened head ( J:37799 )

reproductive system

small testis ( J:37799 )

♂ • at all ages assessed

testis hypoplasia ( J:59839 )

♂

abnormal spermatogenesis ( J:59839 )

♂ • less than normal level of spermatogenesis as assessed histologically

reduced female fertility ( J:37799 )

♀ • female homozygotes occassionally breed and have morphologically normal ovaries

male infertility ( J:37799 )

♂ • males are sterile

growth/size/body

short snout ( J:37799 , J:59839 )

shortened head ( J:37799 )

decreased birth body size ( J:37799 )

• runts at birth

kidney cyst ( J:37799 )

• 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

kidney cortex cyst ( J:37799 )

polycystic kidney ( J:37799 , J:59839 )

• 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)

decreased body size ( J:59839 )

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

decreased body length ( J:59839 )

hematopoietic system

anemia ( J:37799 , J:59839 )

• hematocrit falls progressively as homozygotes age and many are anemic before they are weaned (J:59839)

poikilocytosis ( J:59839 )

• marked by 7 to 8 months of age

homeostasis/metabolism

increased blood urea nitrogen level ( J:59839 )

• 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	J:37799