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Tor1atm2Wtd
Targeted Allele Detail
Summary
Symbol: Tor1atm2Wtd
Name: torsin family 1, member A (torsin A); targeted mutation 2, William T Dauer
MGI ID: MGI:3623422
Synonyms: DYT1(deltaE), DYT1 KI, Tor1adeltaE, Tor1adeltagag
Gene: Tor1a  Location: Chr2:30850639-30857945 bp, - strand  Genetic Position: Chr2, 21.77 cM
Alliance: Tor1atm2Wtd page
Abnormal white matter microstructure in Tor1atm2Wtd/Tor1a+ mice

Show the 2 phenotype image(s) involving this allele.

Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:107596
Parent Cell Line:  W9.5/W95 (ES Cell)
Strain of Origin:  129S1/Sv-Oca2+ Tyr+ Kitl+
Mutation
description
Allele Type:    Targeted (Hypomorph)
Mutation:    Intragenic deletion
 
Mutation detailsA targeting vector was designed to create a pathogenic glutamic acid deletion in exon 5. A neomycin resistance gene included in the vector was subsequently removed via cre mediated recombination. (J:107596)
Phenotypes
Key:
hm homozygous ht heterozygous tg involves transgenes phenotype observed
cn conditional genotype  cx complex: > 1 genome feature ot other: hemizygous, indeterminate,... N normal phenotype
Genotype/
Background:
Allelic Composition
Genetic Background
Cell Line(s)
Allelic CompositionGenetic BackgroundCell Line(s)
 
involves: 129S1/Sv
 
involves: 129S1/Sv * C57BL/6J
 
involves: 129S1/Sv * CD-1
 
involves: 129S1/Sv * DBA/2J
 
ht6  Disease Model
Tor1atm2Wtd/Tor1a+
 
ht7  Disease Model
Tor1atm2Wtd/Tor1a+
involves: 129S1/Sv
 
involves: 129S1/Sv
 
involves: 129S/SvEv * 129S1/Sv * C57BL/6
 
involves: 129S1/Sv * 129S2/SvPas * 129S6/SvEvTac * C57BL/6J
 
involves: 129S1/Sv * 129S2/SvPas * 129S6/SvEvTac * C57BL/6J
 
involves: 129S1/Sv * 129S2/SvPas * 129S6/SvEvTac * C57BL/6J
 
involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6J * SJL
 
involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6J * SJL
 
involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6J * SJL
 
Phenotypes:
Affected Systems
show or hide all annotated terms Sex:
                       
behavior/neurological
N N N
behavior/neurological phenotype
N N N
abnormal eating behavior
abnormal suckling behavior
abnormal involuntary movement
abnormal reflex
limb grasping
dystonia
tremors
impaired balance
impaired coordination
decreased grip strength
weakness
abnormal limb posture
hunched posture
abnormal gait
decreased vocalization
cellular
abnormal cell nucleus morphology
growth/size/body
N
growth/size/body region phenotype
N
decreased body size
decreased body weight
postnatal growth retardation
mortality/aging
premature death
neonatal lethality, complete penetrance
postnatal lethality, complete penetrance
muscle
dystonia
nervous system
N N
nervous system phenotype
N N
abnormal brain white matter morphology
abnormal red nucleus morphology
absent red nucleus
abnormal dorsal striatum morphology
thin cerebral cortex
abnormal cerebellum vermis morphology
abnormal cerebellum deep nucleus morphology
enlarged cerebellum
gliosis
abnormal nervous system tract morphology
abnormal neuron morphology
abnormal Purkinje cell dendrite morphology
ectopic Purkinje cell
decreased neuron number
abnormal facial nerve morphology
neurodegeneration
neuron degeneration
abnormal neuron physiology
vision/eye
narrow eye opening
delayed eyelid opening
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Key:
disease model   expected model not found
Models:
Human Diseases
ht6
ht7
IDs
Expression
In Mice Carrying this Mutation: 14 assay results
2 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation: 9 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Tor1a Mutation:  24 strains or lines available
References
Original:  J:107596 Goodchild RE, et al., Loss of the dystonia-associated protein torsinA selectively disrupts the neuronal nuclear envelope. Neuron. 2005 Dec 22;48(6):923-32
All:  28 reference(s)

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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last database update
12/17/2024
MGI 6.24
The Jackson Laboratory