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Phenotypes Associated with This Genotype
Genotype
MGI:3614391
Allelic
Composition
Arhgdiatm1Ytk/Arhgdiatm1Ytk
Genetic
Background
involves: 129S/SvEv * C57BL/6 * DBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Arhgdiatm1Ytk mutation (0 available); any Arhgdia mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• animals die within a year from renal failure (J:57995)
• animals die within a year from renal failure (J:57995)

renal/urinary system
• capillary loop structure is destroyed (J:57995)
• capillary loop structure is destroyed (J:57995)
• endotheial cells are decreased in number (J:57995)
• endotheial cells are decreased in number (J:57995)
• cystic dilation, with distal and collecting tubules more severely affected (J:57995)
• cystic dilation, with distal and collecting tubules more severely affected (J:57995)
• severe abnormalities or absent when nothing but cellular debris present (J:57995)
• severe abnormalities or absent when nothing but cellular debris present (J:57995)
• absent when nothing but cellular debris present (J:57995)
• absent when nothing but cellular debris present (J:57995)
• mesangial region is occupied by electron dense material (J:57995)
• mesangial region is occupied by electron dense material (J:57995)
• mesangial cells are decreased in number (J:57995)
• mesangial cells are decreased in number (J:57995)
• sclerosis apparent in the mesangial region and some glomeruli exhibit globular sclerosis (J:57995)
• sclerosis apparent in the mesangial region and some glomeruli exhibit globular sclerosis (J:57995)
• renal tubule epithelial cells are flattened and frequently delaminated from the basal membrane (J:57995)
• epithelial cells exhibit vacuolar degeneration predominantly at the basal side (J:57995)
• renal tubule epithelial cells are flattened and frequently delaminated from the basal membrane (J:57995)
• epithelial cells exhibit vacuolar degeneration predominantly at the basal side (J:57995)
• distal tubules contained debris consisting of acellular and amorphous casts (J:57995)
• epithelial cells of distal tubules show variable anomalies from nearly normal appearance in intact tubules to flattened and degenerating cells in dilated tubules (J:57995)
• distal tubules contained debris consisting of acellular and amorphous casts (J:57995)
• epithelial cells of distal tubules show variable anomalies from nearly normal appearance in intact tubules to flattened and degenerating cells in dilated tubules (J:57995)
• cystic dilation, with distal and collecting tubules more severely affected (J:57995)
• cystic dilation, with distal and collecting tubules more severely affected (J:57995)
• distal tubules contained debris consisting of acellular and amorphous casts (J:57995)
• distal tubules contained debris consisting of acellular and amorphous casts (J:57995)
• kidney cysts present in proximal and distal renal tubules (J:57995)
• kidney cysts present in proximal and distal renal tubules (J:57995)
• urinary protein concentrations at 6, 9 and 12 weeks of age are significantly increased compared to controls (J:57995)
• at 9 months of age, the proteinuria is severe indicating a progressive severity with age (J:57995)
• urinary protein concentrations at 6, 9 and 12 weeks of age are significantly increased compared to controls (J:57995)
• at 9 months of age, the proteinuria is severe indicating a progressive severity with age (J:57995)
• interstitial infiltration of inflammatory cells is observed (J:57995)
• interstitial infiltration of inflammatory cells is observed (J:57995)
• reduced clearance at 12 weeks of age, indicating a defect in glomerular function (J:57995)
• reduced clearance at 12 weeks of age, indicating a defect in glomerular function (J:57995)
• at 12 weeks of age, levels of urine output are similar to controls (J:57995)
• at 9 months of age, severe polyuria is seen (J:57995)
• at 12 weeks of age, levels of urine output are similar to controls (J:57995)
• at 9 months of age, severe polyuria is seen (J:57995)

homeostasis/metabolism
• 2 fold increase at 12 weeks of age and high levels are seen at 9 months of age (J:57995)
• 2 fold increase at 12 weeks of age and high levels are seen at 9 months of age (J:57995)
• at 9 months of age, serum urea nitrogen levels are approximately 8 fold higher than controls (J:57995)
• at 9 months of age, serum urea nitrogen levels are approximately 8 fold higher than controls (J:57995)
• 1.5 fold increase at 12 weeks of age (J:57995)
• severly increased levels at 9 months of age (approximately 27 fold increase) (J:57995)
• 1.5 fold increase at 12 weeks of age (J:57995)
• severly increased levels at 9 months of age (approximately 27 fold increase) (J:57995)
• normal serum albumin levels are seen at 12 weeks of age (J:57995)
• at 9 months of age, serum albumin levels are less than half that of controls (J:57995)
• normal serum albumin levels are seen at 12 weeks of age (J:57995)
• at 9 months of age, serum albumin levels are less than half that of controls (J:57995)
• urinary protein concentrations at 6, 9 and 12 weeks of age are significantly increased compared to controls (J:57995)
• at 9 months of age, the proteinuria is severe indicating a progressive severity with age (J:57995)
• urinary protein concentrations at 6, 9 and 12 weeks of age are significantly increased compared to controls (J:57995)
• at 9 months of age, the proteinuria is severe indicating a progressive severity with age (J:57995)

reproductive system
N
• in males, Leydig cells appear morphologically and functionally normal as well as ventral prostates and seminal vesicles (J:57995)
• in females, ovary histology is normal and the formation of secondary follicles and Graafian follicles is normal (J:57995)
• in males, Leydig cells appear morphologically and functionally normal as well as ventral prostates and seminal vesicles (J:57995)
• in females, ovary histology is normal and the formation of secondary follicles and Graafian follicles is normal (J:57995)
• most tubules contained vacuoles to various degrees and the diameters of the tubules are smaller than in controls (J:57995)
• most tubules contained vacuoles to various degrees and the diameters of the tubules are smaller than in controls (J:57995)
• reduced number of germ cells; no spermatids or spermatocytes are seen in the most extreme cases (J:57995)
• mature sperm are rarely seen (J:57995)
• reduced number of germ cells; no spermatids or spermatocytes are seen in the most extreme cases (J:57995)
• mature sperm are rarely seen (J:57995)
• upon superovulation, homozygous females produce smaller numbers of eggs compared to controls (J:57995)
• upon superovulation, homozygous females produce smaller numbers of eggs compared to controls (J:57995)
• in vitro fertilization studies show that homozygous embryos implant normally in pseudopregnant control mice, suggesting that the partial infertility of homozygous females is due to an intrinsic defect in the postimplantation reproductive development of homozygous females (J:57995)
• in vitro fertilization studies show that homozygous embryos implant normally in pseudopregnant control mice, suggesting that the partial infertility of homozygous females is due to an intrinsic defect in the postimplantation reproductive development of homozygous females (J:57995)
• females produced few litters, and these consist of only one to three pups (J:57995)
• females produced few litters, and these consist of only one to three pups (J:57995)
• males are sterile with the exception of one litter produced (J:57995)
• males are sterile with the exception of one litter produced (J:57995)
• in vitro fertilization experiments indicate that sperm from homozygous mice fertilized fewer eggs than control sperm (J:57995)
• in vitro fertilization experiments indicate that sperm from homozygous mice fertilized fewer eggs than control sperm (J:57995)

immune system
• there is a 44% reduction in the number of circulating T cells found in adults (J:140671)
• there is a 44% reduction in the number of circulating T cells found in adults (J:140671)
• interstitial infiltration of inflammatory cells is observed (J:57995)
• interstitial infiltration of inflammatory cells is observed (J:57995)

endocrine/exocrine glands
• most tubules contained vacuoles to various degrees and the diameters of the tubules are smaller than in controls (J:57995)
• most tubules contained vacuoles to various degrees and the diameters of the tubules are smaller than in controls (J:57995)

behavior/neurological
• while young homozygous mice are grossly normal, physical weakness and fraility are apparent with increasing age (J:57995)
• while young homozygous mice are grossly normal, physical weakness and fraility are apparent with increasing age (J:57995)

hematopoietic system
• there is a 44% reduction in the number of circulating T cells found in adults (J:140671)
• there is a 44% reduction in the number of circulating T cells found in adults (J:140671)

cardiovascular system
• capillary loop structure is destroyed (J:57995)
• capillary loop structure is destroyed (J:57995)
• endotheial cells are decreased in number (J:57995)
• endotheial cells are decreased in number (J:57995)

Mouse Models of Human Disease
OMIM ID Ref(s)
Nephrotic Syndrome, Type 2; NPHS2 600995 J:57995


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory