Phenotypes Associated with This Genotype

Genotype
MGI:3039416

• Allelic Composition: Nfat5^tm1Rao/Nfat5^tm1Rao
• Genetic Background: B6.129-Nfat5^tm1Rao

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

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:88636 )

• between E14.5 and E17.5 50% of homozygotes die

postnatal lethality, incomplete penetrance ( J:88636 )

• the majority of homozygotes born alive die around P10

renal/urinary system

increased kidney apoptosis ( J:88636 )

• significant numbers of apoptotic cells are seen in the inner medulla, unlike in wild-type kidneys

tubulointerstitial nephritis ( J:88636 )

• at P70-P120, large abnormal regions of the medulla and cortex were distorted by tubular and interstitial inflammation

abnormal kidney morphology ( J:88636 )

• at P70-P120, mutant kidneys were grossly malformed, having an irregular surface and severe segmental atrophy

abnormal kidney outer medulla morphology ( J:88636 )

• at 3-4 weeks of age, the outer and inner stripes of the outer medulla were not well defined

• a higher cell density was seen in homozygotes compared to wild-type mice

• the architecture of the outer medulla was disrupted

abnormal kidney outer medulla inner stripe morphology ( J:88636 )

• at 3-4 weeks of age, the morphology of the inner stripe of the outer medulla was indistinct, unlike in wild-type kidneys

abnormal kidney pelvis morphology ( J:88636 )

• at 3-4 weeks of age, enlargement of the renal pelvis was observed, indicating progressive atrophy of the medulla

kidney papillary atrophy ( J:88636 )

• atrophic papillae were seen at 3-4 weeks of age

kidney atrophy ( J:88636 )

• disruption of the outer medulla architecture, lack of complete papilla, and enlargement of the renal pelvis are indicative of progressive renal atrophy

• medullary atrophy was associated with the presence of apoptotic bodies in the inner medulla

abnormal renal tubule morphology ( J:88636 )

• the tubules in the outer medulla are curved rather than straight

abnormal renal tubule epithelium morphology ( J:88636 )

• epithelial cells in the medullary renal tubules lacked the normal cuboidal character seen in wild-type kidneys

• instead, epithelial cells were tightly packed with an increased nuclear-to-cytoplasmic ratio

dilated renal tubule ( J:88636 )

• microcystic dilation of the renal tubules was seen in areas adjacent to the atrophic medulla

homeostasis/metabolism

abnormal fluid regulation ( J:88636 )

• osmoprotective gene expression in the kidney medulla is inhibited in homozygotes

growth/size/body

postnatal growth retardation ( J:88636 )

• the body weight of those homozygotes that survive to adulthood is about half that of wild-type

immune system

tubulointerstitial nephritis ( J:88636 )

• at P70-P120, large abnormal regions of the medulla and cortex were distorted by tubular and interstitial inflammation

cellular

increased kidney apoptosis ( J:88636 )

• significant numbers of apoptotic cells are seen in the inner medulla, unlike in wild-type kidneys