Phenotypes Associated with This Genotype

Genotype
MGI:5571280

• Allelic Composition: Umod^Urehd1/Umod⁺
• Genetic Background: involves: C3HeB/FeJ

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

growth/size/body

decreased body weight ( J:201084 )

• starting from 4 weeks of age in males and 7 weeks of age in females

renal glomerulus cyst ( J:201084 )

• in some mice at 20 months of age

adipose tissue

decreased total body fat amount ( J:201084 )

• 69-81% decrease in fat mass at 9 months of age

cellular

abnormal endoplasmic reticulum morphology ( J:201084 )

• strongly dilated in the perinuclear intracytoplasmic compartment of thick ascending limb of Henle's loop cells

skeleton

decreased bone mineral content ( J:201084 )

• at 9 months of age

decreased bone mineral density ( J:201084 )

• at 9 months of age

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:201084 )

N • normal urea level at 2 weeks of age

increased circulating creatinine level ( J:201084 )

• in 8 months old

increased blood urea nitrogen level ( J:201084 )

• median plasma urea concentration is increased in males at 4 weeks of age

• significant increase in females but to a lesser extent than in male at 7 weeks of age

• significant increase in both males and females at 3 months and 8 months

• concentrations increase with age

decreased circulating cholesterol level ( J:201084 )

♂ • in 8 months old

decreased circulating triglyceride level ( J:201084 )

• in 8 months old

increased circulating calcium level ( J:201084 )

• in 8 months old

decreased circulating iron level ( J:201084 )

♀ • in 8 months old

decreased circulating phosphate level ( J:201084 )

♀ • in 8 months old

increased circulating potassium level ( J:201084 )

• in 8 months old

increased circulating alkaline phosphatase level ( J:201084 )

• in 8 months old

decreased circulating ferritin level ( J:201084 )

• in 8 months old

decreased circulating transferrin level ( J:201084 )

• in 8 months old

increased urine calcium level ( J:201084 )

• increase in 24 h excretion and fractional excretion at 9 months of age

increased urine chloride ion level ( J:201084 )

• increase in fractional excretion at 9 months of age

increased urine potassium level ( J:201084 )

• increase in 24 h excretion and fractional excretion at 9 months of age

increased urine sodium level ( J:201084 )

• increase fractional excretion at 9 months of age

increased urine magnesium level ( J:201084 )

• increase in 24 h excretion and fractional excretion at 9 months of age

decreased urine osmolality ( J:201084 )

• with or without deprivation of drinking water

abnormal urine urea nitrogen level ( J:201084 )

• daily urea excretion is increased but fractional excretion and urine-to-plasma concentration ratio are decreased

decreased urine uric acid level ( J:201084 )

• decrease in 24 h excretion and fractional excretion at 9 months of age

renal/urinary system

renal glomerulus cyst ( J:201084 )

• in some mice at 20 months of age

increased urine calcium level ( J:201084 )

• increase in 24 h excretion and fractional excretion at 9 months of age

increased urine chloride ion level ( J:201084 )

• increase in fractional excretion at 9 months of age

increased urine potassium level ( J:201084 )

• increase in 24 h excretion and fractional excretion at 9 months of age

increased urine sodium level ( J:201084 )

• increase fractional excretion at 9 months of age

increased urine magnesium level ( J:201084 )

• increase in 24 h excretion and fractional excretion at 9 months of age

decreased urine osmolality ( J:201084 )

• with or without deprivation of drinking water

abnormal urine urea nitrogen level ( J:201084 )

• daily urea excretion is increased but fractional excretion and urine-to-plasma concentration ratio are decreased

decreased urine uric acid level ( J:201084 )

• decrease in 24 h excretion and fractional excretion at 9 months of age

dilated renal glomerular capsule ( J:201084 )

• in some mice at 20 months of age

renal interstitial fibrosis ( J:201084 )

• at 20 months of age

hydronephrosis ( J:201084 )

abnormal loop of Henle ascending limb thick segment morphology ( J:201084 )

• intracytoplasmic inclusions in cells at 4 months of age

• strongly dilated in the perinuclear intracytoplasmic compartment of thick ascending limb of Henle's loop cells

renal tubular necrosis ( J:201084 )

• at 20 months of age

increased urine flow rate ( J:201084 )

• in 9 month old mice with or without deprivation of drinking water

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
kidney disease		DOID:557		J:201084