Phenotypes associated with this allele

• Allele Symbol: Rrm2b^{Gt(OST85254)Lex}
• Allele Name: gene trap OST85254, Lexicon Genetics
• Allele ID: MGI:3529827
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Rrm2b^Gt(OST85254)Lex/Rrm2b^Gt(OST85254)Lex	involves: 129S5/SvEvBrd * C57BL/6J	MGI:5431124

Genotype
MGI:5431124

hm1

• Allelic Composition: Rrm2b^{Gt(OST85254)Lex}/Rrm2b^{Gt(OST85254)Lex}
• Genetic Background: involves: 129S5/SvEvBrd * C57BL/6J

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

mortality/aging

premature death ( J:186071 )

• mice start to die at 8 weeks of age

• all mice are dead by 13 weeks of age

growth/size/body

decreased lean body mass ( J:186071 )

• lean body mass reduced relative to control mice at 9-10 weeks of age

slow postnatal weight gain ( J:186071 )

• normal size at birth but weight and length are reduced relative to controls by 6 weeks of age

• weight significantly reduced by 9-10 weeks of age

• mice become progressively more ill until they start to die at 8 weeks of age

enlarged kidney ( J:186071 )

• slightly enlarged

adipose tissue

decreased total body fat amount ( J:186071 )

• reduced fat mass by 9-10 weeks of age

renal/urinary system

renal/urinary system phenotype ( J:186071 )

N • normal glomerulus and renal tubule histology at 2-4 weeks of age

increased kidney apoptosis ( J:186071 )

• at 8 weeks of age, TUNEL staining indicates necrotic and apoptotic cells in parietal and renal tubular epithelium, unlike in wild-type controls

increased renal tubule apoptosis ( J:186071 )

• at 8 weeks of age

increased kidney cell proliferation ( J:186071 )

• at 8 weeks of age, Ki67 staining indicates proliferating cells in the parietal and renal tubular epithelium, unlike in wild-type controls

enlarged kidney ( J:186071 )

• slightly enlarged

abnormal urine homeostasis ( J:186071 )

• impaired kidney excretion of contrast dye during CAT scan at 9 weeks of age

increased urine protein level ( J:186071 )

• levels over 100mg/dl and 7 of 10 mice with levels of 300mg/dl

abnormal renal glomerular capsule morphology ( J:186071 )

• in severely affected glomeruli, Bowman's capsule is moderately thickened due to collagen deposition

abnormal glomerular capsule parietal layer morphology ( J:186071 )

• marked vacuolization and hypertrophy of parietal epithelial cells at 8 weeks of age

increased glomerular capsule space ( J:186071 )

• by 8 weeks of age, visceral and parietal epithelial cells fill the expanded urinary space due to vacuolization and hypertrophy

abnormal podocyte morphology ( J:186071 )

• marked vacuolization of visceral epithelial cells at 8 weeks of age

podocyte foot process effacement ( J:186071 )

• progressive foot process effacement first evident at 6 weeks of age

podocyte hypertrophy ( J:186071 )

• marked hypertrophy of visceral epithelial cells at 8 weeks of age

abnormal renal glomerulus basement membrane morphology ( J:186071 )

• irregular folding of thickened glomerular basement membranes in collapsing glomerular tufts

increased renal glomerulus basement membrane thickness ( J:186071 )

• at 8 weeks of age

abnormal renal glomerulus morphology ( J:186071 )

• shrunken avascular glomeruli indicating widespread retraction and collapse of glomerular tufts at 8 weeks of age

• inflammatory infiltrates and fibrosis are absent to minimal in glomeruli and the interstitium

• no synechia, crescents or diffuse endocapillary proliferation are observed

abnormal glomerular capillary morphology ( J:186071 )

• at 8 weeks of age, glomerular capillaries are either collapsed or contain eosinophilic serum protein

abnormal glomerular capillary endothelium morphology ( J:186071 )

• by 8 weeks of age, hypertrophy of glomerular capillary endothelial cells is extensive enough to restrict capillary blood flow

abnormal glomerular endothelium fenestra morphology ( J:186071 )

• reduced fenestrations in hypertrophic endothelial cells within the glomerular capillaries

decreased glomerular capillary number ( J:186071 )

• reduced number of glomerular capillaries at 8 weeks of age

abnormal glomerular mesangium morphology ( J:186071 )

• a reduction in mesangial matrix and mesangial cells is sometimes observed

cortical renal glomerulopathies ( J:186071 )

• mice develop glomerular pathology resulting in nephrotic syndrome

renal glomerulus fibrosis ( J:186071 )

• notable periglomerular fibrosis in moribund mice

abnormal renal tubule morphology ( J:186071 )

• tubular degeneration involving luminal ectasia, cytoplasmic vacuolation, and scattered mitotic and apoptotic cells at 8 weeks of age

renal tubular necrosis ( J:186071 )

abnormal renal tubule epithelium morphology ( J:186071 )

• at 8 weeks of age, the renal tubular epithelium cells are less differentiated and flattened

renal tubule atrophy ( J:186071 )

proximal convoluted tubule brush border loss ( J:186071 )

• at 8 weeks of age, proximal tubular epithelial cells lack a well-defined brush border

dilated renal tubule ( J:186071 )

• at 8 weeks of age, dilated renal tubules are filled with proteinaceous material

pale kidney ( J:186071 )

kidney failure ( J:186071 )

• mice develop progressive renal failure leading to death

• no histopathologic evidence suggesting failure of multiple organs in extrarenal tissues

homeostasis/metabolism

abnormal blood homeostasis ( J:186071 )

increased circulating creatinine level ( J:186071 )

• increased serum creatinine levels at 9-10 weeks of age

increased blood urea nitrogen level ( J:186071 )

• increased serum BUN levels at 9-10 weeks of age

decreased circulating glucose level ( J:186071 )

• reduced serum glucose levels at 9-10 weeks of age

increased circulating cholesterol level ( J:186071 )

• increased serum cholesterol levels at at 9-10 weeks of age

increased circulating triglyceride level ( J:186071 )

• increased serum triglyceride levels at at 9-10 weeks of age

hyperlipidemia ( J:186071 )

• high serum lipid levels at 9-10 weeks of age

increased circulating phosphate level ( J:186071 )

• increased serum phosphate levels at 9-10 weeks of age

decreased circulating alkaline phosphatase level ( J:186071 )

• reduced serum alkaline phosphatase levels at at 9-10 weeks of age

decreased circulating serum albumin level ( J:186071 )

• low serum albumin at 9-10 weeks of age

abnormal urine homeostasis ( J:186071 )

• impaired kidney excretion of contrast dye during CAT scan at 9 weeks of age

increased urine protein level ( J:186071 )

• levels over 100mg/dl and 7 of 10 mice with levels of 300mg/dl

hematopoietic system

thymus atrophy ( J:186071 )

decreased hematocrit ( J:186071 )

• low hematocrit at 9-10 weeks of age

decreased hemoglobin content ( J:186071 )

• low hemoglobin at 9-10 weeks of age

thrombocytosis ( J:186071 )

• high platelet count at 9-10 weeks of age

spleen atrophy ( J:186071 )

cardiovascular system

abnormal glomerular capillary morphology ( J:186071 )

• at 8 weeks of age, glomerular capillaries are either collapsed or contain eosinophilic serum protein

abnormal glomerular capillary endothelium morphology ( J:186071 )

• by 8 weeks of age, hypertrophy of glomerular capillary endothelial cells is extensive enough to restrict capillary blood flow

abnormal glomerular endothelium fenestra morphology ( J:186071 )

• reduced fenestrations in hypertrophic endothelial cells within the glomerular capillaries

decreased glomerular capillary number ( J:186071 )

• reduced number of glomerular capillaries at 8 weeks of age

immune system

thymus atrophy ( J:186071 )

spleen atrophy ( J:186071 )

cellular

increased kidney apoptosis ( J:186071 )

• at 8 weeks of age, TUNEL staining indicates necrotic and apoptotic cells in parietal and renal tubular epithelium, unlike in wild-type controls

increased renal tubule apoptosis ( J:186071 )

• at 8 weeks of age

renal tubular necrosis ( J:186071 )

increased kidney cell proliferation ( J:186071 )

• at 8 weeks of age, Ki67 staining indicates proliferating cells in the parietal and renal tubular epithelium, unlike in wild-type controls

liver/biliary system

liver/biliary system phenotype ( J:186071 )

N • normal liver histology at 8 weeks of age

muscle

muscular atrophy ( J:186071 )

• muscle atrophy at 8 weeks of age, consistent with nephrotic syndrome and end-stage renal failure

skeleton

abnormal compact bone morphology ( J:186071 )

• resorption of cortical bone at 8 weeks of age, consistent with nephrotic syndrome and end-stage renal failure

endocrine/exocrine glands

thymus atrophy ( J:186071 )