Phenotypes Associated with This Genotype

Genotype
MGI:3715141

• Allelic Composition: Lmx1b^tm4.1Rjo/Lmx1b^tm4.1Rjo; Tg(NPHS2-cre)295Lbh/0
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * SJL

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

mortality/aging

postnatal lethality, complete penetrance ( J:122505 )

• most mice do not live past 14 days after birth

renal/urinary system

albuminuria ( J:122505 )

• severe within 5 days postnatal

abnormal podocyte foot process morphology ( J:122505 )

• loss of podocyte foot processes is observed at 5 days, becoming more prominent by 11 days after birth

podocyte foot process effacement ( J:122505 )

• foot process effacement is apparent by 11 days after birth

absent podocyte slit diaphragm ( J:122505 )

• loss of slit diaphragms between podocytes is observed by 11 days after birth

increased renal glomerulus basement membrane thickness ( J:122505 )

• thickening of the glomerular basement membrane is observed by 11 days after birth

abnormal renal glomerulus morphology ( J:122505 )

glomerulosclerosis ( J:122505 )

• by 11 days after birth, kidneys develop a focal-segmental glomerulosclerosis

renal glomerular synechia ( J:122505 )

• adhesions between the glomerular tuft and Bowman's capsule are seen in kidneys at 11 days

dilated renal tubule ( J:122505 )

• occasional dilated tubular profiles at 5 days of age

renal cast ( J:122505 )

• occasional dilated tubules filled with an eosinophilic, probably proteinaceous material at 5 days of age

kidney failure ( J:122505 )

• mice die from renal failure

homeostasis/metabolism

albuminuria ( J:122505 )

• severe within 5 days postnatal

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