Phenotypes associated with this allele

• Allele Symbol: Rps6kb2^tm1Gtho
• Allele Name: targeted mutation 1, George Thomas
• Allele ID: MGI:3771299
• Summary: 7 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Rps6kb2^tm1Gtho/Rps6kb2^tm1Gtho	involves: 129P2/OlaHsd * C57BL/6	MGI:3771306
cx2	Rps6kb1^tm1Gtho/Rps6kb1^tm1Gtho Rps6kb2^tm1Gtho/Rps6kb2^tm1Gtho	B6.129P2-Rps6kb1^tm1Gtho Rps6kb2^tm1Gtho	MGI:3771308
cx3	Rps6kb2^tm1Gtho/Rps6kb2^tm1Gtho Tg(Ins2-Akt1*)3Mbb/0	B6.Cg-Rps6kb2^tm1Gtho Tg(Ins2-Akt1*)3Mbb	MGI:5829208
cx4	Rps6kb1^tm1Gtho/Rps6kb1^tm1Gtho Rps6kb2^tm1Gtho/Rps6kb2^tm1Gtho	involves: 129P2/OlaHsd	MGI:3771311
cx5	Rps6kb1^tm1Gtho/Rps6kb1^tm1Gtho Rps6kb2^tm1Gtho/Rps6kb2^+	involves: 129P2/OlaHsd * C57BL/6	MGI:3771310
cx6	Rps6kb1^tm1Gtho/Rps6kb1^tm1Gtho Rps6kb2^tm1Gtho/Rps6kb2^tm1Gtho	involves: 129P2/OlaHsd * C57BL/6	MGI:3771309
cx7	Rps6kb1^tm1Gtho/Rps6kb1^tm1Gtho Rps6kb2^tm1Gtho/Rps6kb2^tm1Gtho Tg(Ins2-Akt1*)3Mbb/0	involves: 129P2/OlaHsd * C57BL/6 * SJL	MGI:5829203

Genotype
MGI:3771306

hm1

• Allelic Composition: Rps6kb2^tm1Gtho/Rps6kb2^tm1Gtho
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

normal phenotype

no abnormal phenotype detected ( J:89696 )

• mice did not exhibit any obvious phenotype

Genotype
MGI:3771308

cx2

• Allelic Composition: Rps6kb1^tm1Gtho/Rps6kb1^tm1Gtho; Rps6kb2^tm1Gtho/Rps6kb2^tm1Gtho
• Genetic Background: B6.129P2-Rps6kb1^tm1Gtho Rps6kb2^tm1Gtho

mortality/aging

perinatal lethality, incomplete penetrance ( J:89696 )

• lethality is comparable to that observed on a mixed background

neonatal lethality, incomplete penetrance ( J:89696 )

• lethality is comparable to that observed on a mixed background

postnatal lethality, incomplete penetrance ( J:89696 )

• lethality is comparable to that observed on a mixed background

growth/size/body

postnatal growth retardation ( J:89696 )

• growth retardation is comparable to that observed on a mixed background

Genotype
MGI:5829208

cx3

• Allelic Composition: Rps6kb2^tm1Gtho/Rps6kb2^tm1Gtho; Tg(Ins2-Akt1*)3Mbb/0
• Genetic Background: B6.Cg-Rps6kb2^tm1Gtho Tg(Ins2-Akt1*)3Mbb

endocrine/exocrine glands

increased insulinoma incidence ( J:144599 )

• mice develop insulinomas with a 26% penetrance between 10 and 20 months of age

neoplasm

increased insulinoma incidence ( J:144599 )

• mice develop insulinomas with a 26% penetrance between 10 and 20 months of age

Genotype
MGI:3771311

cx4

• Allelic Composition: Rps6kb1^tm1Gtho/Rps6kb1^tm1Gtho; Rps6kb2^tm1Gtho/Rps6kb2^tm1Gtho
• Genetic Background: involves: 129P2/OlaHsd

muscle

abnormal skeletal muscle morphology ( J:129852 )

• muscle cells are resistant to the growth inhibition triggered by rapamycin or nutrient deprivation

• however, sensitivity to rapamycin and nutrient deprivation could be restored by transfection of a constitutively active AMPK

increased skeletal muscle glycogen level ( J:129852 )

• in the gastrocnemius

decreased skeletal muscle fiber diameter ( J:129852 )

• muscle cell diameter is reduced by 20% compared to wild-type (6.2+/-0.2 um compared to 8.9+/-0.5 um for wild-type cells in culture)

abnormal muscle physiology ( J:129852 )

• ATP levels in muscle cells is reduced 34% and AMP levels are increased 40% compared to in wild-type mice

• mitochondrial enzyme activity of citrate synthase and cytochrome c oxidase in myotubes is increased 50% to 70% compared to wild-type

homeostasis/metabolism

increased fatty acid beta-oxidation ( J:129852 )

• mitochondrial fatty acid beta-oxidation was also augmented in mutant muscle cell cultures, as measured by [3H]-palmitate oxidation

increased skeletal muscle glycogen level ( J:129852 )

• in the gastrocnemius

abnormal lipid level ( J:129852 )

• in the gastrocnemius, the total lipid content is reduced by half compared to in wild-type mice

cellular

abnormal mitochondrial morphology ( J:129852 )

• mitochondrial mass in myotubes and white adipose tissue is increased compared to in wild-type mice

abnormal cellular respiration ( J:129852 )

• ATP-dependent and -independent oxidative capacity is increased in skeletal muscle

increased fatty acid beta-oxidation ( J:129852 )

• mitochondrial fatty acid beta-oxidation was also augmented in mutant muscle cell cultures, as measured by [3H]-palmitate oxidation

Genotype
MGI:3771310

cx5

• Allelic Composition: Rps6kb1^tm1Gtho/Rps6kb1^tm1Gtho; Rps6kb2^tm1Gtho/Rps6kb2⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

mortality/aging

postnatal lethality, incomplete penetrance ( J:89696 )

• only 65% of expected embryos survive until weaning

Genotype
MGI:3771309

cx6

• Allelic Composition: Rps6kb1^tm1Gtho/Rps6kb1^tm1Gtho; Rps6kb2^tm1Gtho/Rps6kb2^tm1Gtho
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

mortality/aging

perinatal lethality, incomplete penetrance ( J:89696 )

• one third of mice are born dead without having emerged from their yolk sacs or detached from their placenta

neonatal lethality, incomplete penetrance ( J:89696 )

• half of the mice that are born alive die within hours with signs of cyanosis

• however, mice that survive day 1 usually reach adulthood

postnatal lethality, incomplete penetrance ( J:89696 )

• only 30% of expected embryos survive until weaning

cardiovascular system

abnormal heart morphology ( J:89696 )

• nonviable and cyanotic mice exhibit dilated heart chambers

abnormal blood circulation ( J:89696 )

• nonviable and cyanotic mice exhibit hyperemia of internal organs

hemorrhage ( J:89696 )

• nonviable mice exhibit several sites of hemorrhaging and red blood cells are detected throughout the myocardium red blood cells are detected throughout the myocardium

homeostasis/metabolism

cyanosis ( J:89696 )

• half of the mice that are born alive die within hours with signs of cyanosis

hypoxia ( J:89696 )

• mice delivered by Caesarian section develop transient signs of hypoxia (bluish skin)

growth/size/body

postnatal growth retardation ( J:89696 )

• mice exhibit the same growth rate as Rps6kb1^tm1Gtho homozygotes

reproductive system

decreased litter size ( J:89696 )

• mice produce small litters that exhibit a high incidence of perinatal lethality

Genotype
MGI:5829203

cx7

• Allelic Composition: Rps6kb1^tm1Gtho/Rps6kb1^tm1Gtho; Rps6kb2^tm1Gtho/Rps6kb2^tm1Gtho; Tg(Ins2-Akt1*)3Mbb/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

endocrine/exocrine glands

abnormal pancreatic beta cell morphology ( J:144599 )

• pancreatic beta cells are 4-fold larger than wild-type cells

neoplasm

neoplasm ( J:144599 )

N • mice do not develop insulinomas