Phenotypes Associated with This Genotype

Genotype
MGI:6162682

• Allelic Composition: Umod^em1Duf/Umod⁺
• Genetic Background: C57BL/6J-Umod^em1Duf

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

renal/urinary system

increased kidney apoptosis ( J:252597 )

• marker analysis indicates activation of apoptotic genes in the kidney

kidney inflammation ( J:252597 )

• marker analysis indicates activation of innate immunity genes in the kidney

renal interstitial fibrosis ( J:252597 )

• widespread interstitial fibrosis in both the cortex and medulla of the kidney, with deposition of fibrotic matrix by 24 weeks

• increase in collagens I and III in the kidney

• increase in fibrotic disease markers including laminin, fibronectin, collagen type I, and serpine1

decreased kidney weight ( J:252597 )

• kidney weights are lower by 24 weeks, and a nearly 50% reduction in kidney mass is seen by 30 weeks

abnormal proximal convoluted tubule morphology ( J:252597 )

• marker analysis indicates kidney tubular damage in the proximal tubule

isosthenuria ( J:252597 )

• urine-specific gravity indicates decreased concentrating capacity of urine

kidney failure ( J:252597 )

cellular

abnormal autophagy ( J:252597 )

• marker analysis indicates that kidneys are deficient in autophagy

increased kidney apoptosis ( J:252597 )

• marker analysis indicates activation of apoptotic genes in the kidney

increased endoplasmic reticulum stress ( J:252597 )

• kidneys undergo ER stress

• ER stress upregulation precedes cell death and active suppression of autophagy is a late response to disease

growth/size/body

decreased body weight ( J:252597 )

• the expected increase in body weight with aging does not occur

homeostasis/metabolism

abnormal autophagy ( J:252597 )

• marker analysis indicates that kidneys are deficient in autophagy

increased circulating creatinine level ( J:252597 )

• serum creatinine levels are elevated by 12 weeks of age and progressively increase between 12 and 30 weeks

increased blood urea nitrogen level ( J:252597 )

• blood urea nitrogen levels are elevated by 12 weeks of age and progressively increase between 12 and 30 weeks

immune system

kidney inflammation ( J:252597 )

• marker analysis indicates activation of innate immunity genes in the kidney

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
kidney disease		DOID:557		J:252597