All Phenotypes Tor1a<tm2Wtd> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Tor1a^tm2Wtd
targeted mutation 2, William T Dauer
MGI:3623422

Summary

15 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Tor1a^tm2Wtd/Tor1a^tm2Wtd	D2.129S1-Tor1a^tm2Wtd	MGI:5532926
hm2	Tor1a^tm2Wtd/Tor1a^tm2Wtd	involves: 129S1/Sv	MGI:3624526
hm3	Tor1a^tm2Wtd/Tor1a^tm2Wtd	involves: 129S1/Sv * C57BL/6J	MGI:5532924
hm4	Tor1a^tm2Wtd/Tor1a^tm2Wtd	involves: 129S1/Sv * CD-1	MGI:5532927
hm5	Tor1a^tm2Wtd/Tor1a^tm2Wtd	involves: 129S1/Sv * DBA/2J	MGI:5532925
ht6	Tor1a^tm2Wtd/Tor1a⁺	B6.129S1-Tor1a^tm2Wtd	MGI:5532923
ht7	Tor1a^tm2Wtd/Tor1a⁺	involves: 129S1/Sv	MGI:3624527
ht8	Tor1a^tm1Wtd/Tor1a^tm2Wtd	involves: 129S1/Sv	MGI:3624529
ht9	Tor1a^tm2Wtd/Tor1a^tm4.2Wtd	involves: 129S/SvEv * 129S1/Sv * C57BL/6	MGI:5693975
cn10	Tor1a^tm2Wtd/Tor1a^tm3.1Wtd Tor1b^tm1.2Wtd/Tor1b⁺ Emx1^tm1(cre)Krj/Emx1⁺	involves: 129S1/Sv * 129S2/SvPas * 129S6/SvEvTac * C57BL/6J	MGI:6710960
cn11	Tor1a^tm2Wtd/Tor1a^tm3.1Wtd Emx1^tm1(cre)Krj/Emx1⁺	involves: 129S1/Sv * 129S2/SvPas * 129S6/SvEvTac * C57BL/6J	MGI:6710956
cn12	Tor1a^tm2Wtd/Tor1a^tm3.1Wtd Tor1b^tm1.2Wtd/Tor1b^tm1.2Wtd Emx1^tm1(cre)Krj/Emx1⁺	involves: 129S1/Sv * 129S2/SvPas * 129S6/SvEvTac * C57BL/6J	MGI:6710961
cn13	En1^tm2(cre)Wrst/En1⁺ Tor1a^tm2Wtd/Tor1a^tm3.1Wtd	involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6J * SJL	MGI:5605977
cn14	Gt(ROSA)26Sor^{em1(Tor1b)Wtd}/Gt(ROSA)26Sor⁺ Tor1a^tm2Wtd/Tor1a^tm3.1Wtd Tg(Nes-cre)1Kln/0	involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6J * SJL	MGI:6710964
cn15	Tor1a^tm2Wtd/Tor1a^tm3.1Wtd Tg(Nes-cre)1Kln/0	involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6J * SJL	MGI:5605976

Allelic Composition	Tor1a^tm2Wtd/Tor1a^tm2Wtd
Genetic Background	D2.129S1-Tor1a^tm2Wtd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tor1a^tm2Wtd mutation (1 available); any Tor1a mutation (24 available)

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

mortality/aging

postnatal lethality, complete penetrance ( J:185289 )

• Background Sensitivity: median survival is 1.5 days, similiar to survival on the 129S1/Sv background but longer than on a mixed 129S1/Sv and C57BL/6J background and shorter than on mixed 129S1/Sv/CD-1/ICR and mixed 129S1/Sv/DBA/2J backgrounds

cellular

abnormal cell nucleus morphology ( J:185289 )

• E18.5 mutants exhibit nuclear envelope bleb formation in the cortex (8%), striatum (6%), and cerebellum (71%)

Allelic Composition	Tor1a^tm2Wtd/Tor1a^tm2Wtd
Genetic Background	involves: 129S1/Sv

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tor1a^tm2Wtd mutation (1 available); any Tor1a mutation (24 available)

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

mortality/aging

neonatal lethality, complete penetrance ( J:107596 , J:185289 )

• homozygotes typically die within 48 hours after birth (J:107596)

• Background Sensitivity: median survival is 1.5 days, longer than on a mixed 129S1/Sv and C57BL/6 background but shorter than on a mixed 129S1/Sv/CD-1/ICR or mixed 129S1/Sv and DBA/2J background (J:185289)

cellular

abnormal cell nucleus morphology ( J:107596 , J:185289 )

• lumen of the nuclear envelope contains large numbers of vesicles that appear to derive from the inner nuclear membrane; ventral horn neurons are most affected (J:107596)

• E18.5 mutants exhibit nuclear envelope bleb formation in the cortex (7%), striatum (1.2%), and cerebellum (81%) (J:185289)

behavior/neurological

abnormal suckling behavior ( J:107596 )

• homozygous pups fail to feed after birth

decreased vocalization ( J:107596 )

• homozygous pups do not vocalize after birth

nervous system

abnormal neuron physiology ( J:201535 )

• hippocampal neurons exhibit an accelerated cytoplasmic calcium concentration decay compared to controls

• treatment with glutamate-receptor antagonist does not affect the accelerated decay seen in neurons

Allelic Composition	Tor1a^tm2Wtd/Tor1a^tm2Wtd
Genetic Background	involves: 129S1/Sv * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tor1a^tm2Wtd mutation (1 available); any Tor1a mutation (24 available)

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

mortality/aging

neonatal lethality, complete penetrance ( J:185289 )

• Background Sensitivity: median lifespan is 0.5 days, shorter than on a 129S1/Sv background or other backgrounds studied

Allelic Composition	Tor1a^tm2Wtd/Tor1a^tm2Wtd
Genetic Background	involves: 129S1/Sv * CD-1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tor1a^tm2Wtd mutation (1 available); any Tor1a mutation (24 available)

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

mortality/aging

postnatal lethality, complete penetrance ( J:185289 )

• Background Sensitivity: median lifespan is 2.5 days and all mutants die by P3.5; survival is longer than on the 129S1/Sv or mixed 129S1/Sv and C57BL/6 background

Allelic Composition	Tor1a^tm2Wtd/Tor1a^tm2Wtd
Genetic Background	involves: 129S1/Sv * DBA/2J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tor1a^tm2Wtd mutation (1 available); any Tor1a mutation (24 available)

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

mortality/aging

postnatal lethality, complete penetrance ( J:185289 )

• Background Sensitivity: median survival is 3.5 days, although survival up to 21 days is seen and 13.2% live longer than 7 days; survival is longer than any of the other backgrounds studied, including on the 129S1/Sv or a mixed 129S1/Sv and C57BL/6J background

behavior/neurological

abnormal eating behavior ( J:185289 )

• pups do not feed well and appear generally ill

tremors ( J:185289 )

• mutants that live through the end of the first postnatal week develop abnormal motor behavior, showing tremor and prolonged twisting movements gait, particularly of the hindlimbs

abnormal gait ( J:185289 )

• mutants that live through the end of the first postnatal week develop abnormal motor behavior, showing tremor and prolonged twisting movements gait, particularly of the hindlimbs

Allelic Composition	Tor1a^tm2Wtd/Tor1a⁺
Genetic Background	B6.129S1-Tor1a^tm2Wtd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tor1a^tm2Wtd mutation (1 available); any Tor1a mutation (24 available)

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

Abnormal white matter microstructure in Tor1a^tm2Wtd/Tor1a⁺ mice

nervous system

abnormal brain white matter morphology ( J:171370 )

• abnormal white matter microstructure, showing a reduction in fractional anisotropy, a magnetic resonance diffusion tensor imaging index of axonal integrity and coherence

• white matter abnormalities are localized to the right superior cerebellar tract, the white matter subjacent to the right primary sensorimotor cortex, and the left caudate/putamen

abnormal dorsal striatum morphology ( J:171370 )

• fractional anisotropy reduction in the caudate/putamen

abnormal Purkinje cell dendrite morphology ( J:201962 )

• Purkinje cells show subtle abnormalities among the dendritic trees, showing fewer dendrites and shorter total dendritic lengths

• dendritic spines in Purkinje cells appear thinner and less complex, showing a 14% lower spine density in mutants and 5% lower spine density in females compared to males

ectopic Purkinje cell ( J:201962 )

• mutants exhibit 33% more heterotopic Purkinje cells in the cerebellum than controls

• heterotopic Purkinje cells are more frequent in the caudal cerebellum compared to the anterior cerebellum

abnormal cerebellum vermis morphology ( J:171370 )

• FDG microPET indicates a single brain region with abnormal glucose utilization localized to the superior cerebellar vermis, with increased local metabolic activity

enlarged cerebellum ( J:201962 )

• subtle enlargement of the cerebellum, with total volume of the cerebellum including granule cell layer, molecular cell layer, and deep cerebellar nuclei is slightly increased

• however, no structural abnormality of deep cerebellar nuclei neurons or Purkinje cell numbers

abnormal nervous system tract morphology ( J:171370 )

• reduction of tract numbers in cerebellothalamic (-49%), thalamocortical (-55%) and thalamostriatal (-86%) projection pathways

• fewer tracts, with fiber count reductions, in the rostral (-59%) and caudal (-86%) pontocerebellar pathways

behavior/neurological

behavior/neurological phenotype ( J:185289 )

N	• males exhibit normal motor activity in the open field and habituate similar to wild-type males, normal rotarod behavior and similar performance to wild-type on the beam-walking test • males do not display altered responses to drug challenge

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
torsion dystonia 1		DOID:0060730	OMIM:128100	J:171370 , J:201962

Allelic Composition	Tor1a^tm2Wtd/Tor1a⁺
Genetic Background	involves: 129S1/Sv

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tor1a^tm2Wtd mutation (1 available); any Tor1a mutation (24 available)

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

cellular

abnormal cell nucleus morphology ( J:107596 )

• nuclear envelope is normal compared to homozygous Tor1a homozygous or compound mutants

nervous system

abnormal neuron physiology ( J:201535 )

• hippocampal neurons exhibit a prolonged cytoplasmic calcium concentration decay, indicating that neurons experience calcium overload

• treatment with glutamate-receptor antagonist results in the ablation of this prolonged decay

behavior/neurological

behavior/neurological phenotype ( J:185289 )

N	• males have no apparent behavioral abnormalities

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
torsion dystonia 1		DOID:0060730	OMIM:128100	J:201535

Allelic Composition	Tor1a^tm1Wtd/Tor1a^tm2Wtd
Genetic Background	involves: 129S1/Sv

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tor1a^tm1Wtd mutation (1 available); any Tor1a mutation (24 available)
Tor1a^tm2Wtd mutation (1 available); any Tor1a mutation (24 available)

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

cellular

abnormal cell nucleus morphology ( J:107596 )

• lumen of the nuclear envelope contains large numbers of vesicles that appear to derive from the inner nuclear membrane

Allelic Composition	Tor1a^tm2Wtd/Tor1a^tm4.2Wtd
Genetic Background	involves: 129S/SvEv * 129S1/Sv * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tor1a^tm2Wtd mutation (1 available); any Tor1a mutation (24 available)
Tor1a^tm4.2Wtd mutation (0 available); any Tor1a mutation (24 available)

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

behavior/neurological

abnormal reflex ( J:225567 )

• truncal twisting during tail suspension

• sustained forepaw straining during tail suspension

limb grasping ( J:225567 )

• forelimb clasping during tail suspension

tremors ( J:225567 )

impaired balance ( J:225567 )

• balance beam crossing using forepaws and dragging hind paws

• increased number of footslips on balance beam as compared to control

impaired coordination ( J:225567 )

• balance beam crossing using forepaws and dragging hind paws

• increased number of footslips on balance beam as compared to control

decreased grip strength ( J:225567 )

• impaired ability to remain suspended in horizontal grid hang test (decreased latency to fall)

weakness ( J:225567 )

hunched posture ( J:225567 )

• hunched posture on balance beam

growth/size/body

decreased body weight ( J:225567 )

• reduced body weight beginning at P7 as compared to controls

mortality/aging

premature death ( J:225567 )

• 47.37% survival rate

• most of loss occurs by 30 days of age

nervous system

abnormal cerebellum deep nucleus morphology ( J:225567 )

• reduced numbers of deep cerebellar nuclei

gliosis ( J:225567 )

• regions of gliosis found in deep cerebellar nuclei, cortex, thalamus, red nucleus and facial motor nucleus

abnormal neuron morphology ( J:225567 )

• ubiquitin accumulation found in deep cerebellar nuclei, cortex, thalamus, red nucleus and facial motor nucleus

neurodegeneration ( J:225567 )

vision/eye

delayed eyelid opening ( J:225567 )

Allelic Composition	Tor1a^tm2Wtd/Tor1a^tm3.1Wtd Tor1b^tm1.2Wtd/Tor1b⁺ Emx1^tm1(cre)Krj/Emx1⁺
Genetic Background	involves: 129S1/Sv * 129S2/SvPas * 129S6/SvEvTac * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Emx1^tm1(cre)Krj mutation (2 available); any Emx1 mutation (34 available)
Tor1a^tm2Wtd mutation (1 available); any Tor1a mutation (24 available)
Tor1a^tm3.1Wtd mutation (1 available); any Tor1a mutation (24 available)
Tor1b^tm1.2Wtd mutation (0 available); any Tor1b mutation (20 available)

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

behavior/neurological

limb grasping ( J:288753 )

• mice show increased limb clasping in the tail suspension test

nervous system

thin cerebral cortex ( J:288753 )

• cortical thickness is reduced

• however, CUX1+ (cortical layer II-IV) and CTIP2+ (cortical layer V-VI) cortical neuron counts are normal

Allelic Composition	Tor1a^tm2Wtd/Tor1a^tm3.1Wtd Emx1^tm1(cre)Krj/Emx1⁺
Genetic Background	involves: 129S1/Sv * 129S2/SvPas * 129S6/SvEvTac * C57BL/6J

Find Mice

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

nervous system

nervous system phenotype ( J:288753 )

N	• cortical thickness is normal and mice have normal numbers of CUX1+ (cortical layer II-IV) and CTIP2+ (cortical layer V-VI) cells

Allelic Composition	Tor1a^tm2Wtd/Tor1a^tm3.1Wtd Tor1b^tm1.2Wtd/Tor1b^tm1.2Wtd Emx1^tm1(cre)Krj/Emx1⁺
Genetic Background	involves: 129S1/Sv * 129S2/SvPas * 129S6/SvEvTac * C57BL/6J

Find Mice

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

nervous system

thin cerebral cortex ( J:288753 )

• 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

Allelic Composition	En1^tm2(cre)Wrst/En1⁺ Tor1a^tm2Wtd/Tor1a^tm3.1Wtd
Genetic Background	involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6J * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
En1^tm2(cre)Wrst mutation (1 available); any En1 mutation (34 available)
Tor1a^tm2Wtd mutation (1 available); any Tor1a mutation (24 available)
Tor1a^tm3.1Wtd mutation (1 available); any Tor1a mutation (24 available)

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

behavior/neurological

limb grasping ( J:213785 )

• hindlimb and forelimb clasping observed by P15, however, with maturity clasping decreases

• forepaw clenching during tail suspension observed by P15

dystonia ( J:213785 )

• twisted truncal postures observed by P15, however, mice do not exhibit spontaneous twisting of hind paws

impaired coordination ( J:213785 )

• mice exhibit an increase in number of footslip/cross in beam crossing

muscle

dystonia ( J:213785 )

• twisted truncal postures observed by P15, however, mice do not exhibit spontaneous twisting of hind paws

nervous system

abnormal red nucleus morphology ( J:213785 )

gliosis ( J:213785 )

decreased neuron number ( J:213785 )

• 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 Tor1a^tm1Wtd allele

abnormal facial nerve morphology ( J:213785 )

neurodegeneration ( J:213785 )

• neurodegeneration is milder in in this genotype as compared to mice carrying Tor1a^tm1Wtd allele

Allelic Composition	Gt(ROSA)26Sor^{em1(Tor1b)Wtd}/Gt(ROSA)26Sor⁺ Tor1a^tm2Wtd/Tor1a^tm3.1Wtd Tg(Nes-cre)1Kln/0
Genetic Background	involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6J * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sor^{em1(Tor1b)Wtd} mutation (1 available); any Gt(ROSA)26Sor mutation (994 available)
Tg(Nes-cre)1Kln mutation (4 available)
Tor1a^tm2Wtd mutation (1 available); any Tor1a mutation (24 available)
Tor1a^tm3.1Wtd mutation (1 available); any Tor1a mutation (24 available)

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

behavior/neurological

behavior/neurological phenotype ( J:288753 )

N	• mice show almost complete rescue of the abnormal postural (squinty eyes and twisted hindpaws) and development phenotypes seen in Tor1a^tm2Wtd/Tor1a^tm3.1Wtd Tg(Nes-cre)1Kln/0 mice

growth/size/body

growth/size/body region phenotype ( J:288753 )

N	• mice exhibit partial rescue of the postnatal growth retardation seen in Tor1a^tm2Wtd/Tor1a^tm3.1Wtd Tg(Nes-cre)1Kln/0 mice from P8 to P28 and are fully restored to normal weight by P56

nervous system

nervous system phenotype ( J:288753 )

N	• mice do not exhibit neurodegeneration or gliosis

Allelic Composition	Tor1a^tm2Wtd/Tor1a^tm3.1Wtd Tg(Nes-cre)1Kln/0
Genetic Background	involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6J * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(Nes-cre)1Kln mutation (4 available)
Tor1a^tm2Wtd mutation (1 available); any Tor1a mutation (24 available)
Tor1a^tm3.1Wtd mutation (1 available); any Tor1a mutation (24 available)

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

behavior/neurological

abnormal involuntary movement ( J:213785 )

limb grasping ( J:213785 )

• forelimb clasping

• action-induced forepaw clenching during tail suspension

dystonia ( J:213785 )

• 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

tremors ( J:213785 )

impaired coordination ( J:213785 )

• mice exhibit an increase in the number of footslip/cross in beam crossing

abnormal limb posture ( J:288753 )

• 4 of 7 mice show twisted hindpaws at P15

growth/size/body

decreased body size ( J:213785 )

• mice are significantly smaller than littermate controls

postnatal growth retardation ( J:288753 )

• reduced postnatal growth

muscle

dystonia ( J:213785 )

• 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

nervous system

absent red nucleus ( J:213785 )

• loss of red nucleus by P56

gliosis ( J:213785 , J:288753 )

• 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)

neurodegeneration ( J:213785 )

• abnormal accumulation of perinuclear ubiquitin

neuron degeneration ( J:288753 )

• striatal cholinergic interneuron degeneration

vision/eye

narrow eye opening ( J:213785 )

• squinty eyes

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