Phenotypes associated with this allele
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tor1atm1Wtd mutation
(1 available);
any
Tor1a mutation
(22 available)
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mortality/aging
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• homozygotes typically die within 48 hours after birth
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cellular
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• lumen of the nuclear envelope contains large numbers of vesicles that appear to derive from the inner nuclear membrane with ventral horn neurons most severely affected
• nuclear envelope abnormalities are observed in neurons in the spinal cord, pons, frontal cortex and hippocampus; ventral horn neurons in mutants have an abnormal nuclear shape, being abnormally convoluted compared to wild-type neurons
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behavior/neurological
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• homozygous pups fail to feed after birth
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• homozygous pups do not vocalize after birth
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nervous system
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• membrane abnormalities are more severe in the ventral spinal cord compared to the dorsal spinal cord at E18.5
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tor1atm1Wtd mutation
(1 available);
any
Tor1a mutation
(22 available)
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nervous system
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• Purkinje cells receive more excitatory climbing fiber inputs at P14, but not at P60, suggesting a delay in the regression from multiple-to mono-innervation of climbing fibers from their Purkinje cells or increased innervation from a single climbing fiber
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• GABAergic synapse formation is compromised during the second postnatal week, with mice showing a reduction in the percentage of contacts formed by vesicular GABA transporter terminals at P14 but not at P60
• parallel fiber synapse formation is delayed, with mice showing a decrease in synaptic contacts between parallel fibers and Purkinje cell spines in the molecular layer at P14, however this recovers in adult age, leading to an increase of parallel fiber synaptic contacts
• parallel fiber synaptogenesis is impaired in a co-culture, with granule cells from mutant mice being less prone to form synaptic contacts
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Allelic
Composition |
Tor1atm1Wtd/Tor1a+
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Genetic
Background |
involves: 129S1/Sv |
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tor1atm1Wtd mutation
(1 available);
any
Tor1a mutation
(22 available)
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cellular
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• nuclear envelope morphology is normal compared to Tor1a homozygous or compound mutants
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cellular
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• lumen of the nuclear envelope contains large numbers of vesicles that appear to derive from the inner nuclear membrane
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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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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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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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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 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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• 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
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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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tor1aip1Gt(GST004691)Lex mutation
(0 available);
any
Tor1aip1 mutation
(41 available)
Tor1atm1Wtd mutation
(1 available);
any
Tor1a mutation
(22 available)
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cellular
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• nuclear blebs are observed unlike in single heterozygotes
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Analysis Tools