Phenotypes associated with this allele

• Allele Symbol: Mtor^tm1.2Koz
• Allele Name: targeted mutation 1.2, Sara C Kozma
• Allele ID: MGI:3850506
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Mtor^tm1.2Koz/Mtor^tm1.2Koz Tg(Cd4-cre)1Cwi/0	involves: 129S4/SvJae * C57BL/6 * DBA/2	MGI:3850516
cn2	Mtor^tm1.2Koz/Mtor^tm1.2Koz Tg(ACTA1-cre)79Jme/?	involves: 129S4/SvJae * C57BL/6J * SJL	MGI:4849944

Genotype
MGI:3850516

cn1

• Allelic Composition: Mtor^tm1.2Koz/Mtor^tm1.2Koz; Tg(Cd4-cre)1Cwi/0
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * DBA/2

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

immune system

decreased T cell proliferation ( J:150108 )

• proliferation of anti-CD3 and APC stimulated CD4+ cells is decreased compared with wild-type cells

abnormal thymus cell ratio ( J:150108 )

• mice exhibit an increase in the thymic CD4 to CD8 ratio compared to in wild-type mice (3:1 vs. 9:1)

abnormal T cell differentiation ( J:150108 )

• regardless of skewing conditions, T cells fail to differentiate into effector Th1 or Th2 cells unlike similarly treated wild-type mice

• transgene vaccinia-specified T cells fail to differentiate into Th1 effector cells unlike similarly treated wild-type mice

• under skewing conditions, T cells fail to differentiate into Th17 cells unlike similarly treated wild-type mice

abnormal T cell subpopulation ratio ( J:150108 )

• mice exhibit an increase in the thymic CD4 to CD8 ratio compared to in wild-type mice (3:1 vs. 9:1)

• however, CD4 to CD8 ratios in the spleen, peripheral blood, and lymph nodes are normal

increased regulatory T cell number ( J:150108 )

• TCR engagement, following stimulation with anti-CD3 and APCs, IL2, or IL2 and IL7, leads to increased regulatory T cell differentiation compared to similarly treated wild-type cells

decreased interferon-gamma secretion ( J:150108 )

• anti-CD3 and anti-CD28 stimulated T cells produce less IFN-gamma compared with similarly treated wild-type cells

decreased interleukin-17 secretion ( J:150108 )

• following stimulation with PMA and ionomycin, only 1.1% of T cells isolated from the Peyer's patches produce IL17 compared to 3.8% of similarly treated wild-type cells

decreased interleukin-2 secretion ( J:150108 )

• transgene vaccinia-specified donor T cells subjected to ex vivo rechallenge exhibit increased IL2 production compared with similarly treated wild-type mice

decreased tumor necrosis factor secretion ( J:150108 )

• transgene vaccinia-specified donor T cells subjected to ex vivo rechallenge exhibit increased TNF-alpha production compared with similarly treated wild-type mice

hematopoietic system

decreased T cell proliferation ( J:150108 )

• proliferation of anti-CD3 and APC stimulated CD4+ cells is decreased compared with wild-type cells

abnormal thymus cell ratio ( J:150108 )

• mice exhibit an increase in the thymic CD4 to CD8 ratio compared to in wild-type mice (3:1 vs. 9:1)

abnormal T cell differentiation ( J:150108 )

• regardless of skewing conditions, T cells fail to differentiate into effector Th1 or Th2 cells unlike similarly treated wild-type mice

• transgene vaccinia-specified T cells fail to differentiate into Th1 effector cells unlike similarly treated wild-type mice

• under skewing conditions, T cells fail to differentiate into Th17 cells unlike similarly treated wild-type mice

abnormal T cell subpopulation ratio ( J:150108 )

• mice exhibit an increase in the thymic CD4 to CD8 ratio compared to in wild-type mice (3:1 vs. 9:1)

• however, CD4 to CD8 ratios in the spleen, peripheral blood, and lymph nodes are normal

increased regulatory T cell number ( J:150108 )

• TCR engagement, following stimulation with anti-CD3 and APCs, IL2, or IL2 and IL7, leads to increased regulatory T cell differentiation compared to similarly treated wild-type cells

endocrine/exocrine glands

abnormal thymus cell ratio ( J:150108 )

• mice exhibit an increase in the thymic CD4 to CD8 ratio compared to in wild-type mice (3:1 vs. 9:1)

cellular

decreased T cell proliferation ( J:150108 )

• proliferation of anti-CD3 and APC stimulated CD4+ cells is decreased compared with wild-type cells

Genotype
MGI:4849944

cn2

• Allelic Composition: Mtor^tm1.2Koz/Mtor^tm1.2Koz; Tg(ACTA1-cre)79Jme/?
• Genetic Background: involves: 129S4/SvJae * C57BL/6J * SJL

mortality/aging

premature death ( J:162918 )

• death between 22 and 38 weeks of age

limbs/digits/tail

abnormal limb muscle morphology ( J:162918 )

• severe reduction of plantaris muscle mass (fast-twitch)

abnormal gastrocnemius morphology ( J:162918 )

• severe reduction of fast-twitch muscle mass

abnormal soleus morphology ( J:162918 )

• slow-twitch muscle mass unaffected or slightly increased

abnormal tibialis anterior morphology ( J:162918 )

• severe reduction of fast-twitch muscle mass

• cross sectional area decreased by 24%

muscle

abnormal muscle morphology ( J:162918 )

• paler in color

• two fold reduction in mitochondrial content

increased skeletal muscle glycogen level ( J:162918 )

abnormal limb muscle morphology ( J:162918 )

• severe reduction of plantaris muscle mass (fast-twitch)

abnormal gastrocnemius morphology ( J:162918 )

• severe reduction of fast-twitch muscle mass

abnormal soleus morphology ( J:162918 )

• slow-twitch muscle mass unaffected or slightly increased

abnormal tibialis anterior morphology ( J:162918 )

• severe reduction of fast-twitch muscle mass

• cross sectional area decreased by 24%

abnormal skeletal muscle fiber morphology ( J:162918 )

centrally nucleated skeletal muscle fibers ( J:162918 )

• regenerating fibers with central nuclei

abnormal diaphragm morphology ( J:162918 )

• fibrosis

• fatty infiltration

skeletal muscle degeneration ( J:162918 )

• degeneration with phagocytosis and mononuclear cell infiltration

• inter fiber connective tissue

skeletal muscle fiber degeneration ( J:162918 )

• variable fiber size

• small atrophic fibers observed

abnormal muscle physiology ( J:162918 )

abnormal muscle contractility ( J:162918 )

• maximum tetanic and twitch force is significantly reduced in the soleus and tibialis anterior

• contractions are slow

• increased force deficit in high stress muscle-eccentric contractions of the tibialis anterior

abnormal muscle relaxation ( J:162918 )

• slow

increased muscle fatigability ( J:162918 )

• soleus is less resistant to fatigue

homeostasis/metabolism

decreased circulating glucose level ( J:162918 )

• significantly reduced whole body glucose levels in fasting mice

• normal glucose and insulin levels in fed mice

abnormal oxygen consumption ( J:162918 )

• ratio of maximal to basal respiration is increased in the soleus muscle

decreased oxygen consumption ( J:162918 )

• rate of oxygen consumption by the soleus muscle is diminished

increased skeletal muscle glycogen level ( J:162918 )

growth/size/body

decreased body weight ( J:162918 )

• body weight is reduced by 10% at 6 weeks of age

postnatal growth retardation ( J:162918 )

• growth rate starts to decrease at 4 weeks of age

cellular

decreased mitochondrial number ( J:162918 )

• two fold reduction in mitochondrial content in skeletal muscle

skeleton

kyphosis ( J:162918 )

• spinal deformity begins to develop starting around 13 weeks of age

respiratory system

decreased respiration ( J:162918 )

• difficulty breathing starting around 13 weeks of age

behavior/neurological

abnormal limb posture ( J:162918 )

• abnormal hind limb posture