Phenotypes associated with this allele

• Allele Symbol: Cdh4^tm1Semb
• Allele Name: targeted mutation 1, Henrik Semb
• Allele ID: MGI:2180782
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cdh4^tm1Semb/Cdh4^tm1Semb	either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6J)	MGI:2662431

Genotype
MGI:2662431

hm1

• Allelic Composition: Cdh4^tm1Semb/Cdh4^tm1Semb
• Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6J)

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

renal/urinary system

renal/urinary system phenotype ( J:74658 )

N • adult homozygotes exhibit normal renal function as determined by serum and urine analysis and measurement of the glomerular filtration rate

abnormal kidney development ( J:74658 )

• at E15.5, developing mutant kidneys display defective branching and patterning of ureteric bud epithelium

• the ratio of epithelial structures (including comma- and S-shaped bodies) to ureteric bud tips from in vitro-cultured kidneys is reduced bs 35%

abnormal metanephric mesenchyme morphology ( J:74658 )

• at E15.5, developing mutant kidneys display defective mesenchyme-to-epithelial conversion

increased metanephric mesenchyme apoptosis ( J:74658 )

• at E15.5, increased apoptosis is detected within the ureteric bud epithelium and within the mesenchyme closely associated with the epithelium, as shown by TUNEL assays

abnormal proximal convoluted tubule morphology ( J:74658 )

• at 6 months of age, homozygotes display enlarged proximal tubule lumena and extensive accumulation of intracellular vacuoles in certain regions of the proximal tubule epithelium

• intracellular vacuoles appear as large lysosomal-like structures filled with amorphous membranous material, suggesting that they are autophagosomes or derived from endocytosis

• however, the status of cell junctional complexes and cell polarity remains unaffected and the brush border and glomeruli appear normal

dilated proximal convoluted tubule ( J:74658 )

• all adult homozygotes show an increase in the diameter of the lumina of >50% of proximal tubules relative to <10% of proximal tubules in wild-type controls

• dilated proximal tubules are already evident at E15.5

abnormal ureteric bud morphology ( J:74658 )

• at E15.5, homozygotes display a disorganized ureteric bud epithelium, characterized by less-apparent cell-cell borders, lower nuclear-to-cytoplasmic ratios, and loss of the basal localization of the nuclei

• at E15.5, increased apoptosis is detected within the ureteric bud epithelium and within the mesenchyme closely associated with the epithelium, as shown by TUNEL assays

impaired branching involved in ureteric bud morphogenesis ( J:74658 )

• at E15.5, developing mutant kidneys display defective branching and patterning of ureteric bud epithelium

• in vitro, cultured kidneys display abnormal branching and patterning of ureteric bud epithelium in 19% of mutant explants versus only 5% of wild-type explants

• the ureteric bud epithelium appears longer, slender, unbranched, and often displays abnormally oriented major ureteric bud branches

cellular

increased metanephric mesenchyme apoptosis ( J:74658 )

• at E15.5, increased apoptosis is detected within the ureteric bud epithelium and within the mesenchyme closely associated with the epithelium, as shown by TUNEL assays

embryo

increased metanephric mesenchyme apoptosis ( J:74658 )

• at E15.5, increased apoptosis is detected within the ureteric bud epithelium and within the mesenchyme closely associated with the epithelium, as shown by TUNEL assays