Tor1a Phenotype Annotations

Mammalian Phenotype Ontology Annotations
Query Results - Summary

Symbol
Name
ID

Tor1a
torsin family 1, member A (torsin A)
MGI:1353568

71 phenotypes from 9 alleles in 18 genetic backgrounds

Allelic Composition Genetic Background	Annotated Term	Reference
Emx1^tm1(cre)Yql/Emx1⁺ Tor1a^tm2Yql/Tor1a^tm2Yql involves: 129S2/SvPas * 129S4/SvJae * C57BL/6	abnormal gait	J:130483
	abnormal motor coordination/balance	J:130483
	circling	J:130483
	hyperactivity	J:130483
	increased stereotypic behavior	J:130483
	normal nervous system phenotype	J:130483
En1^tm2(cre)Wrst/En1⁺ Tor1a^tm1Wtd/Tor1a^tm3.1Wtd involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6J	abnormal red nucleus morphology	J:213785
	decreased body weight	J:213785
	decreased neuron number	J:213785
	dystonia	J:213785
	gliosis	J:213785
	limb grasping	J:213785
	neurodegeneration	J:213785
En1^tm2(cre)Wrst/En1⁺ Tor1a^tm2Wtd/Tor1a^tm3.1Wtd involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6J * SJL	abnormal facial nerve morphology	J:213785
	abnormal red nucleus morphology	J:213785
	decreased neuron number	J:213785
	dystonia	J:213785
	gliosis	J:213785
	impaired coordination	J:213785
	limb grasping	J:213785
	neurodegeneration	J:213785
Tor1a^em1(IMPC)H/Tor1a⁺ C57BL/6N-Tor1a^em1(IMPC)H/H	prolonged RR interval	J:211773
Tor1a^em1(IMPC)H/Tor1a^em1(IMPC)H C57BL/6N-Tor1a^em1(IMPC)H/H	preweaning lethality, complete penetrance	J:211773
Tor1a^tm1Calak/Tor1a^tm1Calak involves: 129 * C57BL/6	abnormal brain morphology	J:247570
	abnormal brain white matter morphology	J:247570
	abnormal gait	J:247570
	abnormal pons morphology	J:247570
	abnormal response to new environment	J:247570
	decreased locomotor activity	J:247570
	dystonia	J:247570
	impaired coordination	J:247570
	increased freezing behavior	J:247570
	increased susceptibility to induced morbidity/mortality	J:247570
	postnatal lethality, incomplete penetrance	J:247570
	reduced long-term depression	J:247570
	tremors	J:247570
	trunk curl	J:247570
	weight loss	J:247570
Tor1a^tm1Wtd/Tor1a⁺ B6;129-Tor1a^tm1Wtd/J	abnormal CNS synapse formation	J:225496
Tor1a^tm1Wtd/Tor1a⁺ B6;129-Tor1a^tm1Wtd/J	abnormal Purkinje cell innervation	J:225496
Tor1a^tm1Wtd/Tor1a⁺ involves: 129S1/Sv	abnormal cell nucleus morphology	J:107596
Tor1a^tm1Wtd/Tor1a^tm1Wtd involves: 129S1/Sv	abnormal cell nucleus morphology	J:107596
	abnormal spinal cord morphology	J:107596
	abnormal suckling behavior	J:107596
	decreased vocalization	J:107596
	neonatal lethality, complete penetrance	J:107596
Tor1a^tm1Wtd/Tor1a^tm2Wtd involves: 129S1/Sv	abnormal cell nucleus morphology	J:107596
Tor1a^tm1Wtd/Tor1a^tm3.1Wtd Emx1^tm1(cre)Krj/Emx1⁺ involves: 129S1/Sv * 129S2/SvPas * 129S6/SvEvTac * C57BL/6J	gliosis	J:213785
	impaired coordination	J:213785
	limb grasping	J:288753
	neurodegeneration	J:213785
	thin cerebral cortex	J:288753
Tor1a^tm1Wtd/Tor1a^tm3.1Wtd Tg(dlx5a-cre)1Mekk/0 involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6J * CD-1	abnormal brain interneuron morphology	J:288753
	limb grasping	J:288753
	neuron degeneration	J:288753
	trunk curl	J:288753
Tor1a^tm1Wtd/Tor1a^tm3.1Wtd Tg(Nes-cre)1Kln/0 involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6J * SJL	abnormal facial nerve morphology	J:213785
	abnormal posture	J:288753
	abnormal red nucleus morphology	J:213785
	decreased body weight	J:288753
	decreased brain size	J:288753
	decreased neuron number	J:213785
	dystonia	J:213785, J:288753
	enlarged lateral ventricles	J:288753
	gliosis	J:213785, J:288753
	impaired coordination	J:213785
	narrow eye opening	J:213785
	neurodegeneration	J:213785
	postnatal growth retardation	J:288753
	postnatal lethality, complete penetrance	J:213785, J:288753
	weight loss	J:213785
Tor1a^tm2.1Yql/Tor1a^tm2.1Yql involves: 129S2/SvPas * 129S4/SvJae * BALB/cJ * C57BL/6	absent gastric milk in neonates	J:130483
	postnatal lethality, complete penetrance	J:130483
Tor1a^tm2Wtd/Tor1a⁺ B6.129S1-Tor1a^tm2Wtd	abnormal brain white matter morphology	J:171370
	abnormal cerebellum vermis morphology	J:171370
	abnormal dorsal striatum morphology	J:171370
	abnormal nervous system tract morphology	J:171370
	abnormal Purkinje cell dendrite morphology	J:201962
	normal behavior/neurological phenotype	J:185289
	ectopic Purkinje cell	J:201962
	enlarged cerebellum	J:201962
Tor1a^tm2Wtd/Tor1a⁺ involves: 129S1/Sv	abnormal cell nucleus morphology	J:107596
	abnormal neuron physiology	J:201535
	normal behavior/neurological phenotype	J:185289
Tor1a^tm2Wtd/Tor1a^tm2Wtd D2.129S1-Tor1a^tm2Wtd	abnormal cell nucleus morphology	J:185289
Tor1a^tm2Wtd/Tor1a^tm2Wtd D2.129S1-Tor1a^tm2Wtd	postnatal lethality, complete penetrance	J:185289
Tor1a^tm2Wtd/Tor1a^tm2Wtd involves: 129S1/Sv	abnormal cell nucleus morphology	J:107596, J:185289
	abnormal neuron physiology	J:201535
	abnormal suckling behavior	J:107596
	decreased vocalization	J:107596
	neonatal lethality, complete penetrance	J:107596, J:185289
Tor1a^tm2Wtd/Tor1a^tm2Wtd involves: 129S1/Sv * C57BL/6J	neonatal lethality, complete penetrance	J:185289
Tor1a^tm2Wtd/Tor1a^tm2Wtd involves: 129S1/Sv * CD-1	postnatal lethality, complete penetrance	J:185289
Tor1a^tm2Wtd/Tor1a^tm2Wtd involves: 129S1/Sv * DBA/2J	abnormal eating behavior	J:185289
	abnormal gait	J:185289
	postnatal lethality, complete penetrance	J:185289
	tremors	J:185289
Tor1a^tm2Wtd/Tor1a^tm3.1Wtd Emx1^tm1(cre)Krj/Emx1⁺ involves: 129S1/Sv * 129S2/SvPas * 129S6/SvEvTac * C57BL/6J	normal nervous system phenotype	J:288753
Tor1a^tm2Wtd/Tor1a^tm3.1Wtd Tg(Nes-cre)1Kln/0 involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6J * SJL	abnormal involuntary movement	J:213785
	abnormal limb posture	J:288753
	absent red nucleus	J:213785
	decreased body size	J:213785
	dystonia	J:213785
	gliosis	J:213785, J:288753
	impaired coordination	J:213785
	limb grasping	J:213785
	narrow eye opening	J:213785
	neurodegeneration	J:213785
	neuron degeneration	J:288753
	postnatal growth retardation	J:288753
	tremors	J:213785
Tor1a^tm2Wtd/Tor1a^tm4.2Wtd involves: 129S/SvEv * 129S1/Sv * C57BL/6	abnormal cerebellum deep nucleus morphology	J:225567
	abnormal neuron morphology	J:225567
	abnormal reflex	J:225567
	decreased body weight	J:225567
	decreased grip strength	J:225567
	delayed eyelid opening	J:225567
	gliosis	J:225567
	hunched posture	J:225567
	impaired balance	J:225567
	impaired coordination	J:225567
	limb grasping	J:225567
	neurodegeneration	J:225567
	premature death	J:225567
	tremors	J:225567
	weakness	J:225567
Tor1a^tm3.1Wtd/Tor1a^tm3.1Wtd Speer6-ps1^{Tg(Alb-cre)21Mgn}/Speer6-ps1⁺ involves: 129S6/SvEvTac * C57BL/6 * C57BL/6J * DBA	hepatic steatosis	J:345574
Tor1a^tm4.1Wtd/Tor1a^tm4.1Wtd involves: 129S/SvEv * C57BL/6	no abnormal phenotype detected	J:225567
Tor1a^tm4.2Wtd/Tor1a^tm4.2Wtd involves: 129S/SvEv * 129S1/Sv * C57BL/6	abnormal cell nucleus morphology	J:225567
	abnormal neuron morphology	J:225567
	abnormal reflex	J:225567
	decreased body weight	J:225567
	decreased grip strength	J:225567
	delayed eyelid opening	J:225567
	gliosis	J:225567
	hunched posture	J:225567
	impaired balance	J:225567
	impaired coordination	J:225567
	limb grasping	J:225567
	premature death	J:225567
	preweaning lethality, incomplete penetrance	J:225567
	tremors	J:225567
	weakness	J:225567

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