Phenotypes associated with this allele

• Allele Symbol: Tor1a^tm3.1Wtd
• Allele Name: targeted mutation 3.1, William T Dauer
• Allele ID: MGI:5605367
• Summary: 17 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	En1^tm2(cre)Wrst/En1^+ Tor1a^tm1Wtd/Tor1a^tm3.1Wtd	involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6J	MGI:5605974
cn2	Tor1a^tm1Wtd/Tor1a^tm3.1Wtd Emx1^tm1(cre)Krj/Emx1^+	involves: 129S1/Sv * 129S2/SvPas * 129S6/SvEvTac * C57BL/6J	MGI:5605975
cn3	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
cn4	Tor1a^tm2Wtd/Tor1a^tm3.1Wtd Emx1^tm1(cre)Krj/Emx1^+	involves: 129S1/Sv * 129S2/SvPas * 129S6/SvEvTac * C57BL/6J	MGI:6710956
cn5	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
cn6	Tor1a^tm1Wtd/Tor1a^tm3.1Wtd Tor1b^tm1.2Wtd/Tor1b^tm1.1Wtd Emx1^tm1(cre)Krj/Emx1^+	involves: 129S1/Sv * 129S2/SvPas * 129S6/SvEvTac * C57BL/6J	MGI:6710955
cn7	Tor1a^tm1Wtd/Tor1a^tm3.1Wtd Tg(dlx5a-cre)1Mekk/0	involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6J * CD-1	MGI:6710969
cn8	Gt(ROSA)26Sor^em1(Tor1b)Wtd/Gt(ROSA)26Sor^+ Tor1a^tm1Wtd/Tor1a^tm3.1Wtd Tg(dlx5a-cre)1Mekk/0	involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6J * CD-1	MGI:6710971
cn9	Tor1a^tm1Wtd/Tor1a^tm3.1Wtd Tg(Nes-cre)1Kln/0	involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6J * SJL	MGI:5605973
cn10	Tor1a^tm2Wtd/Tor1a^tm3.1Wtd Tg(Nes-cre)1Kln/0	involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6J * SJL	MGI:5605976
cn11	En1^tm2(cre)Wrst/En1^+ Tor1a^tm2Wtd/Tor1a^tm3.1Wtd	involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6J * SJL	MGI:5605977
cn12	Gt(ROSA)26Sor^em1(Tor1b)Wtd/Gt(ROSA)26Sor^+ Tor1a^tm1Wtd/Tor1a^tm3.1Wtd Tg(Nes-cre)1Kln/0	involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6J * SJL	MGI:6710962
cn13	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
cn14	Tor1a^tm3.1Wtd/Tor1a^tm3.1Wtd Tor1aip1^tm1.1Wtd/Tor1aip1^tm1.1Wtd Speer6-ps1^Tg(Alb-cre)21Mgn/Speer6-ps1^+	involves: 129S6/SvEvTac * C57BL/6 * C57BL/6J * DBA	MGI:7611647
cn15	Tor1a^tm3.1Wtd/Tor1a^tm3.1Wtd Speer6-ps1^Tg(Alb-cre)21Mgn/Speer6-ps1^+	involves: 129S6/SvEvTac * C57BL/6 * C57BL/6J * DBA	MGI:7611649
cn16	Tor1a^tm3.1Wtd/Tor1a^tm3.1Wtd Tor1aip1^tm1.1Wtd/Tor1aip1^+ Speer6-ps1^Tg(Alb-cre)21Mgn/Speer6-ps1^+	involves: 129S6/SvEvTac * C57BL/6 * C57BL/6J * DBA	MGI:7611650
cn17	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

Genotype
MGI:5605974

cn1

• Allelic Composition: En1^tm2(cre)Wrst/En1⁺; Tor1a^tm1Wtd/Tor1a^tm3.1Wtd
• Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6J

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

nervous system

gliosis ( J:213785 )

• reactive gliosis is observed in superior cerebellar peduncle and deep cerebellar nuclei

abnormal red nucleus morphology ( 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 higher in this genotype as compared to mice carrying Tor1a^tm2Wtd allele

neurodegeneration ( J:213785 )

• neurodegeneration is observed in midbrain/hindbrain

behavior/neurological

limb grasping ( J:213785 )

• hindlimb and forelimb clasping observed by P15

• forepaw clenching during tail suspension observed by P15

dystonia ( J:213785 )

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

growth/size/body

decreased body weight ( J:213785 )

• mice are weigh less by P28 than littermate controls

muscle

dystonia ( J:213785 )

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

cellular

gliosis ( J:213785 )

• reactive gliosis is observed in superior cerebellar peduncle and deep cerebellar nuclei

Genotype
MGI:5605975

cn2

• Allelic Composition: Tor1a^tm1Wtd/Tor1a^tm3.1Wtd; Emx1^tm1(cre)Krj/Emx1⁺
• Genetic Background: involves: 129S1/Sv * 129S2/SvPas * 129S6/SvEvTac * C57BL/6J

behavior/neurological

limb grasping ( J:288753 )

• a subset of mice exhibit limb clasping during tail suspension

impaired coordination ( J:213785 )

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

nervous system

gliosis ( J:213785 )

• reactive gliosis is observed in corpus callosum

thin cerebral cortex ( J:288753 )

• reduction in cortical thickness

• however, the number of CUX1+ (cortical layer II-IV) or CTIP2+ (cortical layer V-VI) cortical neurons is not altered

neurodegeneration ( J:213785 )

• observed in cortex

cellular

gliosis ( J:213785 )

• reactive gliosis is observed in corpus callosum

Genotype
MGI:6710961

cn3

• 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

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

Genotype
MGI:6710956

cn4

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

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

Genotype
MGI:6710960

cn5

• 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

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

Genotype
MGI:6710955

cn6

• Allelic Composition: Tor1a^tm1Wtd/Tor1a^tm3.1Wtd; Tor1b^tm1.2Wtd/Tor1b^tm1.1Wtd; Emx1^tm1(cre)Krj/Emx1⁺
• Genetic Background: involves: 129S1/Sv * 129S2/SvPas * 129S6/SvEvTac * C57BL/6J

mortality/aging

premature death ( J:288753 )

• mice exhibit early lethality beginning in the third postnatal week and endpoint of survival is P28

growth/size/body

postnatal growth retardation ( J:288753 )

• mice show reduced postnatal growth

nervous system

gliosis ( J:288753 )

• mice exhibit gliosis in the cerebral cortex and hippocampus at P28

thin cerebral cortex ( J:288753 )

• 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

neurodegeneration ( J:288753 )

• mice exhibit cell loss in the cerebral cortex and hippocampus at P28

cellular

gliosis ( J:288753 )

• mice exhibit gliosis in the cerebral cortex and hippocampus at P28

Genotype
MGI:6710969

cn7

• Allelic Composition: Tor1a^tm1Wtd/Tor1a^tm3.1Wtd; Tg(dlx5a-cre)1Mekk/0
• Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6J * CD-1

behavior/neurological

limb grasping ( J:288753 )

• mice exhibit limb clasping in the tail suspension test at P70

trunk curl ( J:288753 )

• mice exhibit abnormal twisting movements and 9 of 11 mice show trunk twisting during the tail suspension test

nervous system

abnormal brain interneuron morphology ( J:288753 )

• mice exhibit 33.5% fewer dorsal striatal cholinergic interneurons at P70

neuron degeneration ( J:288753 )

• mice exhibit 33.5% fewer dorsal striatal cholinergic interneurons at P70, indicating degeneration

Genotype
MGI:6710971

cn8

• Allelic Composition: Gt(ROSA)26Sor^{em1(Tor1b)Wtd}/Gt(ROSA)26Sor⁺; Tor1a^tm1Wtd/Tor1a^tm3.1Wtd; Tg(dlx5a-cre)1Mekk/0
• Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6J * CD-1

behavior/neurological

behavior/neurological phenotype ( J:288753 )

N • mice show rescue of the limb clasping phenotype and the twisting movements seen in Tor1a^tm1Wtd/Tor1a^tm3.1Wtd Tg(Dlx5a-cre)1Mekk/0 mice

nervous system

nervous system phenotype ( J:288753 )

N • mice show prevention of striatal cholinergic interneuron degeneration that occurs in Tor1a^tm1Wtd/Tor1a^tm3.1Wtd Tg(Dlx5a-cre)1Mekk/0 mice

Genotype
MGI:5605973

cn9

• Allelic Composition: Tor1a^tm1Wtd/Tor1a^tm3.1Wtd; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6J * SJL

behavior/neurological

dystonia ( J:213785 , J:288753 )

• mice exhibit prolonged abnormal twisting movements (J:213785)

• hindpaw twisting (J:213785)

• mice exhibit overtly twisting movements (J:288753)

impaired coordination ( J:213785 )

• increase in the number of footslip/cross in beam walking test

abnormal posture ( J:288753 )

• stiff postures

growth/size/body

decreased body weight ( J:288753 )

weight loss ( J:213785 )

• progressive weight loss

postnatal growth retardation ( J:288753 )

• lack of postnatal weight gain

mortality/aging

postnatal lethality, complete penetrance ( J:213785 , J:288753 )

• mice die by P16 (J:213785)

• early lethality, with 100% lethality by P15 (J:288753)

muscle

dystonia ( J:213785 , J:288753 )

• mice exhibit prolonged abnormal twisting movements (J:213785)

• hindpaw twisting (J:213785)

• mice exhibit overtly twisting movements (J:288753)

nervous system

gliosis ( J:213785 , J:288753 )

• 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)

decreased brain size ( J:288753 )

enlarged lateral ventricles ( J:288753 )

abnormal red nucleus morphology ( J:213785 )

decreased neuron number ( J:213785 )

• near absence of large neuronal perikarya in red nucleus and facial nerve nuclei (7N) observed at P10

abnormal facial nerve morphology ( J:213785 )

neurodegeneration ( J:213785 )

• 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

vision/eye

narrow eye opening ( J:213785 )

• squinty eyes

cellular

gliosis ( J:213785 , J:288753 )

• 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)

Genotype
MGI:5605976

cn10

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

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

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)

absent red nucleus ( J:213785 )

• loss of red nucleus by P56

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

cellular

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)

Genotype
MGI:5605977

cn11

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

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

gliosis ( J:213785 )

abnormal red nucleus morphology ( 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

cellular

gliosis ( J:213785 )

Genotype
MGI:6710962

cn12

• Allelic Composition: Gt(ROSA)26Sor^{em1(Tor1b)Wtd}/Gt(ROSA)26Sor⁺; Tor1a^tm1Wtd/Tor1a^tm3.1Wtd; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6J * SJL

normal phenotype

no abnormal phenotype detected ( J:288753 )

• mice do not exhibit lethality, growth defects, or abnormal twisting movements or stiff postures, and exhibit normal brain with no gliosis

Genotype
MGI:6710964

cn13

• 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

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

Genotype
MGI:7611647

cn14

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

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, 7 +/- 3% compared to 64 +/- 5%

hepatic steatosis ( J:345574 )

• grossly white livers

abnormal liver physiology ( J:345574 )

• decreased triglyceride, apoB100, and apoB48 secretion rates

Genotype
MGI:7611649

cn15

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

liver/biliary system

hepatic steatosis ( J:345574 )

• grossly white livers

Genotype
MGI:7611650

cn16

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

liver/biliary system

hepatic steatosis ( J:345574 )

• grossly white livers

Genotype
MGI:7611653

cn17

• 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

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