All Phenotypes Tor1a<+> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Tor1a⁺
wild type
MGI:2438645

Summary

8 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Tor1a^tm2Wtd/Tor1a⁺	B6.129S1-Tor1a^tm2Wtd	MGI:5532923
ht2	Tor1a^tm1Wtd/Tor1a⁺	B6;129-Tor1a^tm1Wtd/J	MGI:5759931
ht3	Tor1a^em1(IMPC)H/Tor1a⁺	C57BL/6N-Tor1a^em1(IMPC)H/H	MGI:6461765
ht4	Tor1a^tm1Wtd/Tor1a⁺	involves: 129S1/Sv	MGI:3624525
ht5	Tor1a^tm2Wtd/Tor1a⁺	involves: 129S1/Sv	MGI:3624527
ht6	Tor1a^tm1Yql/Tor1a⁺	involves: 129S2/SvPas * C57BL/6	MGI:3613373
cn7	Tor1a^tm3.1Wtd/Tor1a⁺ Tor1aip1^tm1.1Wtd/Tor1aip1^tm1.1Wtd Speer6-ps1^{Tg(Alb-cre)21Mgn}/Speer6-ps1⁺	involves: 129S6/SvEvTac * C57BL/6 * C57BL/6J * DBA	MGI:7611653
cx8	Tor1a^tm1Wtd/Tor1a⁺ Tor1aip1^{Gt(GST004691)Lex}/Tor1aip1⁺	involves: 129S1/Sv	MGI:4460959

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 (26 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^tm1Wtd/Tor1a⁺
Genetic Background	B6;129-Tor1a^tm1Wtd/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tor1a^tm1Wtd mutation (1 available); any Tor1a mutation (26 available)

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

nervous system

abnormal Purkinje cell innervation ( J:225496 )

• 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

abnormal CNS synapse formation ( J:225496 )

• 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

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
torsion dystonia 1		DOID:0060730	OMIM:128100	J:225496

Allelic Composition	Tor1a^em1(IMPC)H/Tor1a⁺
Genetic Background	C57BL/6N-Tor1a^em1(IMPC)H/H

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tor1a^em1(IMPC)H mutation (3 available); any Tor1a mutation (26 available)

Data Sources

IMPC Data for Tor1a

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

cardiovascular system

prolonged RR interval ( J:211773 )

IMPC - HAR

Allelic Composition	Tor1a^tm1Wtd/Tor1a⁺
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 (26 available)

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

cellular

abnormal cell nucleus morphology ( J:107596 )

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

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 (26 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^tm1Yql/Tor1a⁺
Genetic Background	involves: 129S2/SvPas * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tor1a^tm1Yql mutation (1 available); any Tor1a mutation (26 available)

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

behavior/neurological

impaired balance ( J:104513 )

• males only slipped about 215% more than controls in beam walking tests at 6 months

abnormal locomotor behavior ( J:104513 )

abnormal gait ( J:104513 )

• larger overlap of paw placement in gait analysis

increased locomotor activity ( J:104513 )

• in males as measured in open field tests

• horizontal activity only

nervous system

abnormal pontine nuclei morphology ( J:104513 )

• protein aggregates of torsinA and ubiquitin surrounding the nucleus in cells of the pontine nuclei

• in males only

homeostasis/metabolism

decreased dopamine level ( J:104513 )

• although dopamine levels and the levels of most metabolites were normal, 4-hydroxy-3-methoxyphenylacetic acid level is reduced 27%

• in males only

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
torsion dystonia 1		DOID:0060730	OMIM:128100	J:104513

Allelic Composition	Tor1a^tm3.1Wtd/Tor1a⁺ Tor1aip1^tm1.1Wtd/Tor1aip1^tm1.1Wtd Speer6-ps1^{Tg(Alb-cre)21Mgn}/Speer6-ps1⁺
Genetic Background	involves: 129S6/SvEvTac * C57BL/6 * C57BL/6J * DBA

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Speer6-ps1^{Tg(Alb-cre)21Mgn} mutation (6 available); any Speer6-ps1 mutation (4 available)
Tor1aip1^tm1.1Wtd mutation (1 available); any Tor1aip1 mutation (41 available)
Tor1a^tm3.1Wtd mutation (1 available); any Tor1a mutation (26 available)

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

liver/biliary system

abnormal hepatocyte morphology ( J:345574 )

• 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%

hepatic steatosis ( J:345574 )

• grossly white livers

Allelic Composition	Tor1a^tm1Wtd/Tor1a⁺ Tor1aip1^{Gt(GST004691)Lex}/Tor1aip1⁺
Genetic Background	involves: 129S1/Sv

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tor1aip1^{Gt(GST004691)Lex} mutation (0 available); any Tor1aip1 mutation (41 available)
Tor1a^tm1Wtd mutation (1 available); any Tor1a mutation (26 available)

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

cellular

abnormal cell nucleus morphology ( J:160544 )

• nuclear blebs are observed unlike in single heterozygotes

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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