Phenotypes Associated with This Genotype

Genotype
MGI:5428841

• Allelic Composition: Tg(Pklr-HRAS*G12V)21Ak/0
• Genetic Background: involves: C57BL/6 * DBA/2

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

mortality/aging

premature death ( J:44803 )

• males become moribound on average at around the 4th month of life, while females survive to around 10 months of age; reason for morbidity is unclear

renal/urinary system

polycystic kidney ( J:44803 )

• mutants develop polycystic kidney disease with complete penetrance; disease is more severe in males than females

• 2 month old kidneys are pale and enlarged 5-fold, with a bosselated cortical surface; entire kidney is occupied by predominant cysts intermingled with tubular clusters

• however, mutants do not develop liver or pancreatic cysts or renal failure

reproductive system

abnormal epididymis morphology ( J:44803 )

♂ • mutants exhibit lesions in epididymis

enlarged epididymis ( J:44803 )

♂ • some mutants exhibit enlarged epididymis; the ductus epididymis is distended and surrounded by a thick connective interstitium infiltrated with inflammatory cells

male infertility ( J:44803 )

♂

hematopoietic system

abnormal thymus morphology ( J:44803 )

• mutants exhibit lesions in the thymus

enlarged thymus ( J:44803 )

• some mutants exhibit enlarged thymus

immune system

abnormal thymus morphology ( J:44803 )

• mutants exhibit lesions in the thymus

enlarged thymus ( J:44803 )

• some mutants exhibit enlarged thymus

endocrine/exocrine glands

abnormal thymus morphology ( J:44803 )

• mutants exhibit lesions in the thymus

enlarged thymus ( J:44803 )

• some mutants exhibit enlarged thymus

growth/size/body

polycystic kidney ( J:44803 )

• mutants develop polycystic kidney disease with complete penetrance; disease is more severe in males than females

• 2 month old kidneys are pale and enlarged 5-fold, with a bosselated cortical surface; entire kidney is occupied by predominant cysts intermingled with tubular clusters

• however, mutants do not develop liver or pancreatic cysts or renal failure

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cystic kidney disease		DOID:2975		J:44803