Phenotypes associated with this allele

• Allele Symbol: Mtor^tm1.2Seq
• Allele Name: targeted mutation 1.2, Susan E Quaggin
• Allele ID: MGI:5425404
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Mtor^tm1.2Seq/Mtor^tm1.2Seq	involves: C57BL/6 * SJL	MGI:5425537
cn2	Mtor^tm1.1Seq/Mtor^tm1.2Seq Tg(Nphs2-cre)1Seq/?	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:5425539

Genotype
MGI:5425537

hm1

• Allelic Composition: Mtor^tm1.2Seq/Mtor^tm1.2Seq
• Genetic Background: involves: C57BL/6 * SJL

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

mortality/aging

prenatal lethality, complete penetrance ( J:184667 )

• homozygous mice die in utero

Genotype
MGI:5425539

cn2

• Allelic Composition: Mtor^tm1.1Seq/Mtor^tm1.2Seq; Tg(Nphs2-cre)1Seq/?
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

growth/size/body

postnatal growth retardation ( J:184667 )

• growth restriction observed starting around 4 weeks of age

• no overt phenotypes until after 3 weeks of age

homeostasis/metabolism

abnormal urine homeostasis ( J:184667 )

• protein/creatinine ratio is significantly increased at 3 weeks of age

renal/urinary system

abnormal urine homeostasis ( J:184667 )

• protein/creatinine ratio is significantly increased at 3 weeks of age

abnormal renal glomerular capsule morphology ( J:184667 )

increased glomerular capsule space ( J:184667 )

• distended Bowman's space at 5 weeks

abnormal podocyte morphology ( J:184667 )

• numerous vacuolated podocytes at 4 weeks of age

• widespread vacuolation of podocytes at 5 weeks of age

podocyte foot process effacement ( J:184667 )

• focal effacement at 3 weeks of age but endothelium and glomerular basement membranes are preserved

abnormal renal glomerulus morphology ( J:184667 )

• areas of sclerosis at 4 weeks of age

• complete destruction of glomerular tuft at 5 weeks of age

abnormal renal tubule morphology ( J:184667 )

• proteinaceous casts found in tubules of 2-3 week old mice

cellular

abnormal cell morphology ( J:184667 )

• autophagosomal vesicles accumulate in podocytes beginning at 2 weeks of age