Phenotypes Associated with This Genotype

Genotype
MGI:5438034

• Allelic Composition: Ctnnb1^tm2Kem/Ctnnb1^tm2Kem; Tg(Hoxb7-cre)5526Cmb/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

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

mortality/aging

neonatal lethality, complete penetrance ( J:136068 )

• mutant pups reach term but die within 24 hrs of birth

renal/urinary system

decreased kidney cell proliferation ( J:136068 )

• at E12.5, reduced cell proliferation is noted in both ureteric and metanephric mesenchyme cells

• a modest (1.7-fold) decrease in ureteric bud cell proliferation is observed

abnormal kidney morphology ( J:136068 )

• 57% of newborn pups exhibit bilateral tiny dysplastic kidney rudiments which are deficient in nephrons, collecting ducts, and cortico-medullary patterning

• a dysgenetic kidney phenotype is histologically evident at E13.5

increased metanephric mesenchyme apoptosis ( J:136068 )

• at E12.5, metanephric mesenchyme cell apoptosis is increased 3.8-fold relative to that in wild-type controls

• in contrast, ureteric bud epithelial cell apoptosis is not significantly altered

decreased kidney collecting duct number ( J:136068 )

• at P0, dysplastic kidney rudiments are deficient in collecting ducts

absent nephrogenic zone ( J:136068 )

• at P0, newborn pups with dysplastic kidney rudiments lack a nephrogenic zone

small kidney ( J:136068 )

• at P0, dysplastic kidney rudiments are tiny

• at E12.5, mutant kidneys are slightly smaller than wild-type but histologically normal

decreased nephron number ( J:136068 )

• at P0, dysplastic kidney rudiments exhibit very few nephron structures

absent kidney ( J:136068 )

• 43% of newborn pups exhibit bilateral renal aplasia

hydroureter ( J:136068 )

• at P0, newborn pups with dysplastic kidney rudiments exhibit hydroureter

impaired branching involved in ureteric bud morphogenesis ( J:136068 )

• at E12.5, mutant kidneys show a highly attenuated ureteric branching pattern relative to wild-type kidneys

• by E13.5, ureteric bud tissue is reduced and developing nephrogenic structures are absent

• however, normal junctional complexes and adherens junctions are present in the epithelial cells of the ureteric bud at E13.5

cellular

increased metanephric mesenchyme apoptosis ( J:136068 )

• at E12.5, metanephric mesenchyme cell apoptosis is increased 3.8-fold relative to that in wild-type controls

• in contrast, ureteric bud epithelial cell apoptosis is not significantly altered

decreased kidney cell proliferation ( J:136068 )

• at E12.5, reduced cell proliferation is noted in both ureteric and metanephric mesenchyme cells

• a modest (1.7-fold) decrease in ureteric bud cell proliferation is observed

embryo

increased metanephric mesenchyme apoptosis ( J:136068 )

• at E12.5, metanephric mesenchyme cell apoptosis is increased 3.8-fold relative to that in wild-type controls

• in contrast, ureteric bud epithelial cell apoptosis is not significantly altered