Phenotypes Associated with This Genotype

Genotype
MGI:3583134

• Allelic Composition: T(2;10)67Gso/T(2;10)67Gso
• Genetic Background: involves: 101 * C3H * C3H/Rl * C57BL/RlGso * SEC/RlGso

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

mortality/aging

neonatal lethality, complete penetrance ( J:75799 )

• most of those that survive the first day of life die by 3-4 days of age

neonatal lethality, incomplete penetrance ( J:75799 )

• many homozygotes die immediately after birth

renal/urinary system

kidney cyst ( J:75799 )

• elongated cysts that extend radially from the cortex towards the medullary pyramid

• collecting tubules within the cortex are elongated and dilated with cysts which are lined with cuboidal epithelium

enlarged kidney ( J:75799 )

• kidneys are bilaterally enlarged and pale

liver/biliary system

biliary cyst ( J:75799 )

• cysts are lined with a single layer of low columnar to cuboidal cells

• bile ducts are increased in number and dilated and no normal interlobular ducts are seen

jaundice ( J:75799 )

• most homozygotes turn a yellow-orange color before death

growth/size/body

biliary cyst ( J:75799 )

• bile ducts are increased in number and dilated and no normal interlobular ducts are seen

• cysts are lined with a single layer of low columnar to cuboidal cells

decreased birth body size ( J:75799 )

• homozytgotes are smaller than unaffected littermates at birth

kidney cyst ( J:75799 )

• elongated cysts that extend radially from the cortex towards the medullary pyramid

• collecting tubules within the cortex are elongated and dilated with cysts which are lined with cuboidal epithelium

distended abdomen ( J:75799 )

• seen at 1-3 days of age

enlarged kidney ( J:75799 )

• kidneys are bilaterally enlarged and pale

behavior/neurological

weakness ( J:75799 )

• homozytgotes are weaker than unaffected littermates at birth

endocrine/exocrine glands

biliary cyst ( J:75799 )

• bile ducts are increased in number and dilated and no normal interlobular ducts are seen

• cysts are lined with a single layer of low columnar to cuboidal cells

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive polycystic kidney disease		DOID:0110861		J:75799