Phenotypes Associated with This Genotype

Genotype
MGI:5471840

• Allelic Composition: Hnf1b^tm1Ics/Hnf1b^tm1Sce; Wnt4^{tm2(EGFP/cre)Svo}/Wnt4⁺
• Genetic Background: involves: 129P2/OlaHsd

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

mortality/aging

postnatal lethality, complete penetrance ( J:194051 )

• die within the first 2 days after birth

renal/urinary system

abnormal kidney morphology ( J:194051 )

• higher density of mature glomeruli in the medulla region compared to the periphery unlike in controls

renal glomerulus cyst ( J:194051 )

• 12-16% of glomeruli become cystic

abnormal metanephros morphology ( J:194051 )

• expression analysis indicates a defect in proximal and intermediate regions of the S-shaped bodies development during tubule development

• S-shaped bodies appear less convoluted

• decrease in proliferation in comma-shaped bodies and a stronger decrease in the future proximal tubule of S-shaped bodies at E16.5

• increase in apoptosis in kidney epithelium but not stroma at E16.5

• strong increase in apoptosis in late mutant nephron tubules and a more moderate increase in S-shaped bodies

hydronephrosis ( J:194051 )

• occasional

abnormal renal tubule morphology ( J:194051 )

• decrease in tubular structures

• reduction of 43.5% in mature glomeruli mutant kidneys

• higher density of mature glomeruli in the medulla region compared to the periphery unlike in controls

abnormal loop of Henle morphology ( J:194051 )

• medullar elongated loop of Henle tubules are not visible at P0

abnormal proximal convoluted tubule morphology ( J:194051 )

• not visible at P0

growth/size/body

renal glomerulus cyst ( J:194051 )

• 12-16% of glomeruli become cystic