Phenotypes Associated with This Genotype

Genotype
MGI:3804962

• Allelic Composition: Lin7c^tm1Dsb/Lin7c^tm1Dsb
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

Lin7c^tm1Dsb/Lin7c^tm1Dsb mice display renal defects

growth/size/body

decreased body weight ( J:134806 )

• body weight of mice is decreased by 10%

polycystic kidney ( J:134806 )

• kidneys are studded with numerous cysts in the cortex and medulla

• vast majority of cysts lack tubule segment specific markers

renal/urinary system

increased urine sodium level ( J:134806 )

• sodium excretion is higher than in controls with the fractional excretion percentage being 1.2% compared to 0.74% in controls

decreased urine osmolality ( J:134806 )

• mice only have a 3-fold gain in urine osmalirity after 12 hour water deprivation and vasopressin injection compared to a 7.2-fold response in control mice

abnormal kidney morphology ( J:134806 )

polycystic kidney ( J:134806 )

• kidneys are studded with numerous cysts in the cortex and medulla

• vast majority of cysts lack tubule segment specific markers

abnormal renal tubule epithelium morphology ( J:134806 )

• tubular epithelia lose polarity with sodium pump channels that are normally localized basolaterally being found diffusely through out the cell

renal interstitial fibrosis ( J:134806 )

• is observed in adult kidneys with extracellular matrix proteins and fibroblasts evident

decreased kidney weight ( J:134806 )

• adult kidney weight is reduced by 45% compared to controls while other organs such as heart are only 10% smaller

• decreased kidney weight is observed when homozygotes are backcrossed to 129/Sv mice or C57BL/6 mice

dilated renal tubule ( J:134806 )

• adult kidneys display tubular dilation and dedifferentiation of the renal tubules

single kidney ( J:134806 )

• about 15% of neonates display unilateral renal agenesis

abnormal kidney physiology ( J:134806 )

increased kidney apoptosis ( J:134806 )

• E14.5 kidneys have a 10-fold more apoptosis underlying the renal capsule compared to controls

• this increased apoptosis is evident as early as E12.5

decreased creatinine clearance ( J:134806 )

• creatine clearance is modestly decreased compared to controls

polyuria ( J:134806 )

• urine output is more than doubled compared to controls

homeostasis/metabolism

increased blood urea nitrogen level ( J:134806 )

• blood urea nitrogen levels are significantly increased compared to controls

increased urine sodium level ( J:134806 )

• sodium excretion is higher than in controls with the fractional excretion percentage being 1.2% compared to 0.74% in controls

decreased urine osmolality ( J:134806 )

• mice only have a 3-fold gain in urine osmalirity after 12 hour water deprivation and vasopressin injection compared to a 7.2-fold response in control mice

cellular

increased kidney apoptosis ( J:134806 )

• E14.5 kidneys have a 10-fold more apoptosis underlying the renal capsule compared to controls

• this increased apoptosis is evident as early as E12.5