Phenotypes associated with this allele
nervous system
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• reactive gliosis is observed in superior cerebellar peduncle and deep cerebellar nuclei
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• decrease in neuron number in red nucleus and deep cerebellar nuclei (DCN) as compared to controls
• neuron loss in DCN is 2 fold higher in this genotype as compared to mice carrying Tor1atm2Wtd allele
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• neurodegeneration is observed in midbrain/hindbrain
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behavior/neurological
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• hindlimb and forelimb clasping observed by P15
• forepaw clenching during tail suspension observed by P15
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• twisted truncal postures observed by P15, however, mice do not exhibit spontaneous hind paw twisting
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growth/size/body
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• mice are weigh less by P28 than littermate controls
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muscle
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• twisted truncal postures observed by P15, however, mice do not exhibit spontaneous hind paw twisting
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behavior/neurological
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• a subset of mice exhibit limb clasping during tail suspension
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• mice exhibit an increase in the number of footslip/cross in beam crossing
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nervous system
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• reduction in cortical thickness
• however, the number of CUX1+ (cortical layer II-IV) or CTIP2+ (cortical layer V-VI) cortical neurons is not altered
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• reactive gliosis is observed in corpus callosum
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nervous system
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• cortical thickness is normal at birth but is dramatically reduced by P28, with mice showing a nonsignificant reduction of CUX1+ (cortical layer II-IV) cortical neurons and a significant reduction of CTIP2+ (cortical layer V-VI) cortical neurons at P28
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nervous system
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N |
• cortical thickness is normal and mice have normal numbers of CUX1+ (cortical layer II-IV) and CTIP2+ (cortical layer V-VI) cells
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behavior/neurological
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• mice show increased limb clasping in the tail suspension test
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nervous system
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• cortical thickness is reduced
• however, CUX1+ (cortical layer II-IV) and CTIP2+ (cortical layer V-VI) cortical neuron counts are normal
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mortality/aging
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• mice exhibit early lethality beginning in the third postnatal week and endpoint of survival is P28
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growth/size/body
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• mice show reduced postnatal growth
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nervous system
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• cerebral cortex is thinner at P28, with a 64.8% reduction compared to 10.4% reduction in single conditional Tor1a homozygous mutant mice
• mice exhibit reductions of CUX1+ (cortical layer II-IV) and CTIP2+ (cortical layer V-VI) cortical neurons in sensorimotor cortex
• however, no overt brain structural abnormalities are seen at birth, cortical thickness is normal at birth, and the number of CTIP2+ (cortical layer V-VI) cortical neurons are not different at P0
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• mice exhibit gliosis in the cerebral cortex and hippocampus at P28
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• mice exhibit cell loss in the cerebral cortex and hippocampus at P28
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behavior/neurological
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• mice exhibit limb clasping in the tail suspension test at P70
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• mice exhibit abnormal twisting movements and 9 of 11 mice show trunk twisting during the tail suspension test
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nervous system
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• mice exhibit 33.5% fewer dorsal striatal cholinergic interneurons at P70
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• mice exhibit 33.5% fewer dorsal striatal cholinergic interneurons at P70, indicating degeneration
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behavior/neurological
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N |
• mice show rescue of the limb clasping phenotype and the twisting movements seen in Tor1atm1Wtd/Tor1atm3.1Wtd Tg(Dlx5a-cre)1Mekk/0 mice
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nervous system
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N |
• mice show prevention of striatal cholinergic interneuron degeneration that occurs in Tor1atm1Wtd/Tor1atm3.1Wtd Tg(Dlx5a-cre)1Mekk/0 mice
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behavior/neurological
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• mice exhibit prolonged abnormal twisting movements
(J:213785)
• hindpaw twisting
(J:213785)
• mice exhibit overtly twisting movements
(J:288753)
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• increase in the number of footslip/cross in beam walking test
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growth/size/body
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• progressive weight loss
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• lack of postnatal weight gain
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mortality/aging
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• mice die by P16
(J:213785)
• early lethality, with 100% lethality by P15
(J:288753)
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muscle
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• mice exhibit prolonged abnormal twisting movements
(J:213785)
• hindpaw twisting
(J:213785)
• mice exhibit overtly twisting movements
(J:288753)
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nervous system
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• reactive gliosis is observed at P10 in deep layers of the sensorimotor cortex, ventral posterior thalamus, globus pallidus, deep cerebellar nuclei, red nucleus and facial nerve nuclei
(J:213785)
• gliosis in multiple sensorimotor brain regions, including the cerebral cortex, thalamus, brainstem, and deep cerebellar nuclei
(J:288753)
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• near absence of large neuronal perikarya in red nucleus and facial nerve nuclei (7N) observed at P10
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• abnormal accumulation of perinuclear ubiquitin is found in the thalamus and to a lessor degree in the hippocampus
• increased ER stress and activated caspase 3 (observed by immunostaining) are observed in sensorimotor regions as compared to controls
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vision/eye
behavior/neurological
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• forelimb clasping
• action-induced forepaw clenching during tail suspension
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• mice develop spontaneous abnormal movements by second postnatal week
• unilateral twisted hind paw
• bilateral twisted hind paws
• prolonged stiff extension of hind limbs
• abnormal toe postures
• tail extension
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• mice exhibit an increase in the number of footslip/cross in beam crossing
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• 4 of 7 mice show twisted hindpaws at P15
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growth/size/body
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• mice are significantly smaller than littermate controls
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• reduced postnatal growth
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muscle
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• mice develop spontaneous abnormal movements by second postnatal week
• unilateral twisted hind paw
• bilateral twisted hind paws
• prolonged stiff extension of hind limbs
• abnormal toe postures
• tail extension
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nervous system
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• loss of red nucleus by P56
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• minimal gliosis is observed in spinal cord
(J:213785)
• reactive gliosis is observed at P56 in deep layers of the sensorimotor cortex, ventral posterior thalamus, globus pallidus, deep cerebellar nuclei, red nucleus and facial nerve nuclei and is less severe than gliosis found in null mice
(J:213785)
• reactive gliosis in the cortex and thalamus
(J:288753)
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• abnormal accumulation of perinuclear ubiquitin
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• striatal cholinergic interneuron degeneration
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vision/eye
behavior/neurological
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• hindlimb and forelimb clasping observed by P15, however, with maturity clasping decreases
• forepaw clenching during tail suspension observed by P15
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• twisted truncal postures observed by P15, however, mice do not exhibit spontaneous twisting of hind paws
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• mice exhibit an increase in number of footslip/cross in beam crossing
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muscle
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• twisted truncal postures observed by P15, however, mice do not exhibit spontaneous twisting of hind paws
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nervous system
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• decrease in neuron number in red nucleus and deep cerebellar nuclei (DCN) as compared to controls
• neuron loss in DCN is 2 fold less in this genotype as compared to mice carrying Tor1atm1Wtd allele
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• neurodegeneration is milder in in this genotype as compared to mice carrying Tor1atm1Wtd allele
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normal phenotype
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• mice do not exhibit lethality, growth defects, or abnormal twisting movements or stiff postures, and exhibit normal brain with no gliosis
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behavior/neurological
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N |
• mice show almost complete rescue of the abnormal postural (squinty eyes and twisted hindpaws) and development phenotypes seen in Tor1atm2Wtd/Tor1atm3.1Wtd Tg(Nes-cre)1Kln/0 mice
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growth/size/body
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N |
• mice exhibit partial rescue of the postnatal growth retardation seen in Tor1atm2Wtd/Tor1atm3.1Wtd Tg(Nes-cre)1Kln/0 mice from P8 to P28 and are fully restored to normal weight by P56
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nervous system
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N |
• mice do not exhibit neurodegeneration or gliosis
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Speer6-ps1Tg(Alb-cre)21Mgn mutation
(6 available);
any
Speer6-ps1 mutation
(4 available)
Tor1aip1tm1.1Wtd mutation
(0 available);
any
Tor1aip1 mutation
(41 available)
Tor1atm3.1Wtd mutation
(1 available);
any
Tor1a mutation
(22 available)
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liver/biliary system
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• decrease in the number of nuclei containing 2 or more lipid droplets compared to mutant mice wild-type for Tor1a, 7 +/- 3% compared to 64 +/- 5%
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• decreased triglyceride, apoB100, and apoB48 secretion rates
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Speer6-ps1Tg(Alb-cre)21Mgn mutation
(6 available);
any
Speer6-ps1 mutation
(4 available)
Tor1atm3.1Wtd mutation
(1 available);
any
Tor1a mutation
(22 available)
|
|
|
|
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Speer6-ps1Tg(Alb-cre)21Mgn mutation
(6 available);
any
Speer6-ps1 mutation
(4 available)
Tor1aip1tm1.1Wtd mutation
(0 available);
any
Tor1aip1 mutation
(41 available)
Tor1atm3.1Wtd mutation
(1 available);
any
Tor1a mutation
(22 available)
|
|
|
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Speer6-ps1Tg(Alb-cre)21Mgn mutation
(6 available);
any
Speer6-ps1 mutation
(4 available)
Tor1aip1tm1.1Wtd mutation
(0 available);
any
Tor1aip1 mutation
(41 available)
Tor1atm3.1Wtd mutation
(1 available);
any
Tor1a mutation
(22 available)
|
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liver/biliary system
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• decrease in the number of nuclei containing 2 or more lipid droplets compared to mutant mice wild-type for Tor1a, 33 +/- 7% compared to 64 +/- 5%
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Analysis Tools