Phenotypes Associated with This Genotype

Genotype
MGI:3778926

• Allelic Composition: Os/Os⁺
• Genetic Background: ROP/GnLeJ

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

renal/urinary system

abnormal kidney morphology ( J:3842 )

• renal mass is reduced by 38% in comparison to wild-type

abnormal kidney collecting duct principal cell morphology ( J:3842 )

• the principal cell type in the collecting duct is hypertrophied, with the greatest degree of hypertrophy in the nephrectomized heterozygotes

decreased kidney weight ( J:28323 )

• females at 3 months of age have a 24% reduction in kidney weight but no concomitant change in body or heart weight

decreased compensatory renal growth ( J:3842 )

• in nephrectomized heterozygote males, compensatory kidney growth is reduced in comparison to controls

abnormal nephron morphology ( J:28323 )

• hypertrophied nephrons in females at 3 months of age

abnormal renal glomerulus morphology ( J:102341 , J:166810 , J:3842 , J:28323 )

• Background Sensitivity: this mutation on a C57BL/6J background does not show significant glomerular histopathology (J:102341)

• bone marrow transplant from heterozygotes into wild-type coisognic hosts results in mesangial sclerosis and glomerular hypertrophy (J:166810)

• size of glomeruli is slightly increased in left kidney following unilateral nephrectomy as compared to control (J:3842)

• in females at 3 weeks of age there is a 34% increase in mean cell number per glomerulus compared with controls (J:28323)

glomerulonephritis ( J:28323 )

• glomerular cross-sectional area in females assessed at 3 months of age is increased by 1.8 fold compared with controls, although the fraction of the cortex occupied by glomeruli remains the same between mutant and control

expanded mesangial matrix ( J:166810 , J:28323 )

• in females at 3 months of age mesangial sclerosis affects all glomeruli and is evenly distributed in the cortical and justaglomerular regions, with increased extracellular matrix including type IV collagen and tenascin, but no inflammatory cells are found (J:28323)

glomerulosclerosis ( J:166810 , J:28323 , J:32764 )

• Background Sensitivity: on the ROP background but not the C57BL/6J background at 5 months of age there is severe and diffuse glomerulosclerosis restricted to the mesangial regions, with a large excess of type IV collagen and tenascin in the mesangial areas (J:32764)

decreased renal glomerulus number ( J:3842 , J:28323 )

• midtranverse sections from the left kidney indicate that glomeruli density is reduced by 50% in heterozygotes (J:3842)

• females assessed at 3 months of age have a 55% reduction in the mean glomerular number per kidney (J:28323)

abnormal proximal convoluted tubule morphology ( J:3842 )

• segments of proximal tubule, especially pars recta, exhibit hypertrophy

renal tubule hypertrophy ( J:3842 )

• diameters of the proximal convoluted and straight tubules are increased in size as compared to wild-type

• tubular epithelial cells are hypertrophied in both heterozyote and nephrectomized heterozygotes, however, the magnitude of hypertrophy is increased in unaltered mice

increased urine flow rate ( J:3842 )

• rate of urine flow is increased in heterozygotes as compared to controls, however glomerular filtration rate is not affected

• excretion of creatinine, sodium and potassium is similar to control

homeostasis/metabolism

increased blood urea nitrogen level ( J:3842 )

• BUN levels are increased by almost 50% in both heterozyote and nephrectomized heterozygotes as compared to controls

immune system

glomerulonephritis ( J:28323 )

• glomerular cross-sectional area in females assessed at 3 months of age is increased by 1.8 fold compared with controls, although the fraction of the cortex occupied by glomeruli remains the same between mutant and control