Phenotypes Associated with This Genotype

Genotype
MGI:5289695

• Allelic Composition: Lrp4^tm2Her/Lrp4^tm2Her
• Genetic Background: involves: 129S/SvEv * C57BL

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

Unilateral and bilateral kidney agenesis in Lrp4^tm2Her/Lrp4^tm2Her mice

mortality/aging

neonatal lethality, complete penetrance ( J:160547 )

• homozygotes exhibit immediate post-partum lethality due to neuromuscular junction defects

renal/urinary system

abnormal kidney development ( J:160547 )

• at P0, homozygotes display subpenetrant renal agenesis with rudimentary ureters

• kidney agenesis involves only structures derived from the ureteric bud and metanephric mesenchyme

• the small number of kidneys that do form appear morphologically normal

• the lower urinary and genital systems of both male and female homozygotes remain intact

absent metanephric mesenchyme ( J:160547 )

• at E12.5, the metanephric mesenchyme is absent, unlike in wild-type mice

absent kidney ( J:160547 )

• 51% of homozygotes display bilateral renal agenesis

single kidney ( J:160547 )

• 22% of homozygotes display unilateral renal agenesis

ureter hypoplasia ( J:160547 )

• at P0, homozygotes display bilateral or unilateral renal agenesis with rudimentary ureters

• all newborn homozygotes display at least a partial ureter

abnormal ureteric bud morphology ( J:160547 )

• only 12.5% (1/8) of 38 somite stage newborn homozygotes have formed a ureteric bud relative to 100% of wild type controls, indicating a delay in ureteric bud formation

impaired branching involved in ureteric bud morphogenesis ( J:160547 )

• the ureteric bud fails to undergo secondary branching

• experssion of several branching regulators is lost by E12.5, unlike in wild-type mice

abnormal ureteric bud invasion ( J:160547 )

• at E11.5, the ureteric bud fails to invade the metanephric mesenchyme and form a T-shape

• mesenchymal expression of Pax2 is lost by E12.5, unlike in wild-type mice

nervous system

abnormal neuromuscular synapse morphology ( J:160547 )

• homozygotes die of neuromuscular junction defects