Phenotypes associated with this allele

• Allele Symbol: Nek1^kat
• Allele Name: kidney, anemia and testis
• Allele ID: MGI:1858030
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Nek1^kat/Nek1^kat	B6.RBF(C3Fe)-Nek1^kat/J	MGI:3831371
hm2	Nek1^kat/Nek1^kat	involves: C3HeB/FeJLe * C57BL/6J * RBF/Dn	MGI:3831332
hm3	Nek1^kat/Nek1^kat	involves: C3HeB/FeJLe * RBF/Dn	MGI:3831295
hm4	Nek1^kat/Nek1^kat	involves: RBF/Dn	MGI:3831294

Genotype
MGI:3831371

hm1

• Allelic Composition: Nek1^kat/Nek1^kat
• Genetic Background: B6.RBF(C3Fe)-Nek1^kat/J

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:37799 )

• Background Sensitivity: by generation N5 on the C57BL/6J background half of the homozygotes die before weaning

growth/size/body

decreased body size ( J:37799 )

• by generation N5 to C57BL/6J there is increased severity of the phenotype including severe dwarfing

proportional dwarf ( J:37799 )

craniofacial

domed cranium ( J:37799 )

skeleton

domed cranium ( J:37799 )

Genotype
MGI:3831332

hm2

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

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

Genotype
MGI:3831295

hm3

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

mortality/aging

premature death ( J:37799 )

• Background Sensitivity: on this mixed genetic background homozygotes survive to adulthood, but still have a shortened lifespan

reproductive system

reduced female fertility ( J:37799 )

♀ • homozygous females on this mixed background only breed occasionally

male infertility ( J:37799 )

♂

growth/size/body

decreased body size ( J:37799 )

decreased body length ( J:37799 )

Genotype
MGI:3831294

hm4

• Allelic Composition: Nek1^kat/Nek1^kat
• Genetic Background: involves: RBF/Dn

mortality/aging

premature death ( J:37799 )

postnatal lethality ( J:37799 )

• Background Sensitivity: on the RBF/Dn background, but not the C3HeB/FeJLe x RBF/Dn mixed background, there is a biphasic death pattern wherein approximately half the homozygotes die before weaning and the remainder die by 1 year of age

craniofacial

domed cranium ( J:37799 )

growth/size/body

kidney cyst ( J:37799 )

decreased body size ( J:37799 )

• all homozygotes are runted with shortened bodies

decreased body length ( J:37799 )

renal/urinary system

kidney cyst ( J:37799 )

skeleton

domed cranium ( J:37799 )

integument

sparse hair ( J:37799 )