Phenotypes Associated with This Genotype

Genotype
MGI:5295884

• Allelic Composition: Pax2^tm1Pgr/Pax2⁺; Ret^tm1Cos/Ret⁺
• Genetic Background: involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ

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

mortality/aging

preweaning lethality, incomplete penetrance ( J:117753 )

• double heterozygotes are significantly underrepresented at weaning, probably due to postnatal renal insufficiency in a subset of newborns

renal/urinary system

decreased renal glomerulus number ( J:117753 )

• at P15, double heterozygotes show a significant reduction of ~49%, 37% and 22% in mean glomerular density (4.57 glomeruli per unit area) relative to wild-type (8.95 glomeruli per unit area), single Ret^tm1Cos heterozygotes (7.25 glomeruli per unit area) and single Pax2^tm1Pgr heterozygotes (5.79 glomeruli per unit area), respectively

renal hypoplasia ( J:117753 )

• at P15, double heterozygotes show a significantly reduced kidney to body mass ratio (0.56%) relative to wild-type (0.75%) or single Ret^tm1Cos heterozygous (0.75%) littermates

• at E18.5, double heterozygotes show a significantly reduced kidney to body mass ratio (0.23%) relative to wild-type (0.42%) or single Ret^tm1Cos heterozygous (0.45%) littermates

absent kidney ( J:117753 )

• at E18.5, about 13% of double heterozygotes display bilateral renal agenesis

single kidney ( J:117753 )

• at E18.5, about 52% of double heterozygotes display unilateral renal agenesis

• at P15, about 15% of double heterozygotes exhibit unilateral renal agenesis, suggesting postnatal death most likely due to renal hypoplasia and insufficiency

absent ureter ( J:117753 )

• at E18.5, the ipsilateral ureters of agenic kidney(s) are also absent

• however, the adrenal glands, bladder and genitals are still present in all instances of renal agenesis

impaired branching involved in ureteric bud morphogenesis ( J:117753 )

• in culture, both E11.5 and E12.5 kidney explants show a stunted pattern of branching morphogenesis with a significantly lower number of branch points relative to wild-type and single Ret^tm1Cos heterozygous explants