Phenotypes Associated with This Genotype

Genotype
MGI:6323048

• Allelic Composition: Tg(HBB-Myc)#Cos/0
• Genetic Background: involves: C57BL/6J * CBA/J

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

mortality/aging

premature death ( J:276641 )

• mice die due to renal failure by 6 weeks to 3 months of age

growth/size/body

polycystic kidney ( J:276641 )

• mice develop polycystic kidney disease, with kidneys showing multicystic bosselated cortical surfaces

• cysts are bilateral and diffuse, affecting both the cortex and medulla, with some containing proteinaceous casts

• however, no hepatic or pancreatic cysts are seen

decreased body size ( J:276641 )

• mice become runted within weeks of birth

enlarged kidney ( J:276641 )

hematopoietic system

anemia ( J:276641 )

decreased hematocrit ( J:276641 )

• hematocrit is 8-15% compared to 40% in controls

homeostasis/metabolism

increased circulating creatinine level ( J:276641 )

• mice exhibit increased serum creatinine levels at 12 weeks of age

increased blood urea nitrogen level ( J:276641 )

• mice exhibit increased blood urinary nitrogen levels at 12 weeks of age

immune system

abnormal immune system organ morphology ( J:276641 )

• in a small percentage of mice, atypical plasma cell infiltrates are also seen in lymphoid organs

kidney inflammation ( J:276641 )

• 80% of adult kidneys contain focal interstitial aggregates of atypical plasma cells with binucleated forms suggesting possible myeloma

• development of polycystic kidneys precedes the appearance of atypical plasmacytic infiltrates

behavior/neurological

lethargy ( J:276641 )

• mice develop lethargy within weeks of birth

muscle

muscular atrophy ( J:276641 )

• mice develop muscular atrophy within weeks of birth

neoplasm

increased adenoma incidence ( J:276641 )

• a few mice contain renal epithelial microadenomas

renal/urinary system

polycystic kidney ( J:276641 )

• mice develop polycystic kidney disease, with kidneys showing multicystic bosselated cortical surfaces

• cysts are bilateral and diffuse, affecting both the cortex and medulla, with some containing proteinaceous casts

• however, no hepatic or pancreatic cysts are seen

enlarged kidney ( J:276641 )

kidney inflammation ( J:276641 )

• 80% of adult kidneys contain focal interstitial aggregates of atypical plasma cells with binucleated forms suggesting possible myeloma

• development of polycystic kidneys precedes the appearance of atypical plasmacytic infiltrates

glomerulosclerosis ( J:276641 )

• focal segmental and global glomerulosclerosis is seen with advanced disease

renal interstitial fibrosis ( J:276641 )

• interstitial fibrosis is seen with advanced disease

kidney failure ( J:276641 )

• renal failure by 6 weeks to 3 months of age

respiratory system

hyperventilation ( J:276641 )

• mice develop hyperventilation within weeks of birth

cardiovascular system

cardiovascular system phenotype ( J:276641 )

N • no cerebral aneurysms are seen

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal dominant polycystic kidney disease		DOID:898		J:45203