Phenotypes Associated with This Genotype

Genotype
MGI:3841044

• Allelic Composition: Pax2^1Neu/Pax2⁺
• Genetic Background: involves: 102 * C57BL/6

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

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:86661 )

• fewer than expected mice are observed at E16

postnatal lethality, incomplete penetrance ( J:86661 )

• 23% fewer than expected mice survive beyond weaning

renal/urinary system

increased kidney apoptosis ( J:59408 , J:86661 )

• at E15-E16, a significant increase in apoptosis (as assessed by TUNEL assay) is noted in the collecting ducts and renal pelvis, as well as in the renal cortex (mostly in ureteric buds); not seen in total kidneys of E18, newborns or P1-P6 pups (J:59408)

• however, increased apoptosis is not observed in glomeruli, or proximal or distal tubules at either E15-16 or later in development (J:59408)

• also, the rate of kidney cell proliferation remains normal from E15 to P6 (J:59408)

• at E16, whole kidney apoptosis is increased compared to in wild-type mice (J:86661)

kidney cyst ( J:59408 )

• ~1% of fetuses show cystic renal abnormalities

decreased renal glomerulus number ( J:59408 , J:86661 )

• at E15-E16, the number of mature glomeruli is only 20% of that in wild-type controls (J:59408)

• compared to in wild-type mice (J:86661)

abnormal kidney development ( J:86661 )

• at E16 and E19, mice exhibit abnormal kidney development that is less severe than in Pax2^1Neu Wt1^tm1Jae heterozygotes

• however, kidney development at E13 is normal

abnormal nephrogenic zone morphology ( J:59408 )

• at E15-E16, the nephrogenic zone is thin and exhibits fewer nephrons, a primitive medulla, a reduced number of mesenchymal condensates and ureteric bud branches, and lacks mature glomeruli, unlike in wild-type controls

• the number of early epithelial structures derived from induced metanephric mesenchyme (vesicles, comma- and S-shaped bodies) is reduced to 30%-40% of wild-type controls

• however, early tubular structures and glomeruli are of normal size and morphology

kidney medulla hypoplasia ( J:59408 )

• at E15, a primitive medulla is observed, unlike the maturing medullary core seen in wild-type controls

small kidney ( J:59408 , J:86661 )

• at E15, the largest heterozygous mutant kidneys overlap in size with the smallest kidneys from wild-type controls (J:59408)

• reduced by 20% (J:86661)

renal hypoplasia ( J:59408 )

• at E15, ~60% of fetuses have hypoplastic kidneys with a maximal cross-sectional surface area ranging from 30% to 75% of that in wild-type controls

decreased nephron number ( J:59408 , J:86661 )

• at E15-E16, fewer nephrons are observed (J:59408)

• at E15, the number of early nephron structures is ~47% of that in wild-type controls (J:59408)

• kidneys contain fewer nephrons, including fewer mesenchymal condensates, comma-shaped bodies and S-shaped bodies, compared to in wild-type kidneys (J:86661)

absent kidney ( J:86661 )

• in 6% of mice

single kidney ( J:59408 )

• ~1% of fetuses show unilateral renal agenesis

impaired branching involved in ureteric bud morphogenesis ( J:59408 )

• at E15, a reduced number of ureteric bud branches is observed relative to wild-type controls

cellular

increased kidney apoptosis ( J:59408 , J:86661 )

• at E15-E16, a significant increase in apoptosis (as assessed by TUNEL assay) is noted in the collecting ducts and renal pelvis, as well as in the renal cortex (mostly in ureteric buds); not seen in total kidneys of E18, newborns or P1-P6 pups (J:59408)

• however, increased apoptosis is not observed in glomeruli, or proximal or distal tubules at either E15-16 or later in development (J:59408)

• also, the rate of kidney cell proliferation remains normal from E15 to P6 (J:59408)

• at E16, whole kidney apoptosis is increased compared to in wild-type mice (J:86661)

growth/size/body

kidney cyst ( J:59408 )

• ~1% of fetuses show cystic renal abnormalities