Phenotypes Associated with This Genotype

Genotype
MGI:3715142

• Allelic Composition: Ldb1^tm1Witz/Ldb1^tm1Witz; Tg(NPHS2-cre)295Lbh/0
• Genetic Background: involves: C57BL/6 * SJL

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

mortality/aging

premature death ( J:122505 )

• most animals die by 4 weeks of age, with a very few surviving 3 months

renal/urinary system

abnormal glomerular capillary endothelium morphology ( J:122505 )

• by 19 days of age, endothelial cells have lifted off the glomerular basement membrane

absent glomerular endothelium fenestra ( J:122505 )

• by 19 days of age, endothelial fenestrations are largely absent

albuminuria ( J:122505 )

• at 19 days, pronounced proteinuria is observed

abnormal podocyte foot process morphology ( J:122505 )

• gradual loss of foot processes is seen

podocyte foot process effacement ( J:122505 )

• occasional foot process effacement can be seen at 5 days and becomes widespread by 19 days of age

abnormal renal glomerulus basement membrane morphology ( J:122505 )

• a split glomerular basement membrane is observed at 5 days

renal glomerular synechia ( J:122505 )

• by 19 days of age, adhesions to Bowman's capsule are observed

renal glomerulus atrophy ( J:122505 )

• at 19 days of age, glomeruli appear atrophied

dilated renal tubule ( J:122505 )

• dilated tubules containing proteinaceous material are seen at 19 days

renal cast ( J:122505 )

• frequent dilated tubular profiles filled with an eosinophilic material are seen at 19 days

homeostasis/metabolism

albuminuria ( J:122505 )

• at 19 days, pronounced proteinuria is observed

cardiovascular system

abnormal glomerular capillary endothelium morphology ( J:122505 )

• by 19 days of age, endothelial cells have lifted off the glomerular basement membrane

absent glomerular endothelium fenestra ( J:122505 )

• by 19 days of age, endothelial fenestrations are largely absent

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
nail-patella syndrome		DOID:9467	OMIM:161200	J:122505