Phenotypes Associated with This Genotype

Genotype
MGI:3711144

• Allelic Composition: Fh1^tm1Pjp/Fh1^tm1Pjp; Tg(Cdh16-cre)91Igr/0
• Genetic Background: involves: 129X1/SvJ * ICR

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

growth/size/body

kidney cyst ( J:120969 , J:198486 )

• all animals exhibit macroscopic renal cysts at post-mortem; (J:120969)

• some cells lining the cysts show poor intercellular cohesion and mild nuclear variation (J:120969)

• cysts are derived from ascending limb of the Loop of Henle and from collecting ducts (J:120969)

kidney corticomedullary cyst ( J:120969 )

• at cortico-medullary junction, kidneys display extensive cytic changes; these irregular cysts are lined with cuboidal epithelium

enlarged kidney ( J:198486 )

homeostasis/metabolism

abnormal urine homeostasis ( J:198486 )

• mice accumulate fumarate, argininosuccinate and citrulline in the kidneys whereas aspartate is depleted

abnormal enzyme/coenzyme activity ( J:120969 )

• cysts occasionally show lack of cytochrome c oxidase activity

renal/urinary system

kidney cyst ( J:120969 , J:198486 )

• all animals exhibit macroscopic renal cysts at post-mortem; (J:120969)

• some cells lining the cysts show poor intercellular cohesion and mild nuclear variation (J:120969)

• cysts are derived from ascending limb of the Loop of Henle and from collecting ducts (J:120969)

kidney corticomedullary cyst ( J:120969 )

• at cortico-medullary junction, kidneys display extensive cytic changes; these irregular cysts are lined with cuboidal epithelium

enlarged kidney ( J:198486 )

abnormal urine homeostasis ( J:198486 )

• mice accumulate fumarate, argininosuccinate and citrulline in the kidneys whereas aspartate is depleted

glomerulosclerosis ( J:120969 )

• occasionally sclerotic glomeruli are seen in tubules

abnormal renal tubule epithelium morphology ( J:120969 )

• some tubules are lined by vacuolated epithelium containing proteinaceous debris, but most have small amounts of eosinophilic secretion

hydronephrosis ( J:120969 )

• mild hydronephrosis is seen in mice >14 months old

kidney failure ( J:120969 )

• some mice develop polyuric renal failure at 8 months of age

polyuria ( J:120969 )

cellular

abnormal tricarboxylic acid cycle ( J:198486 )

• in mouse embryonic fibroblasts

abnormal fibroblast physiology ( J:198486 )

• mouse embryonic fibroblasts exhibit multiple defects in the Krebs cycle and utilizes the urea cycle but not reductive carboxylation compared with wild-type cells

• mouse embryonic fibroblasts exhibit increased sensitivity to arginine deprivation with reduced colony growth and survival compared with wild-type cells