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Gars1em2Rwb
Endonuclease-mediated Allele Detail
Summary
Symbol: Gars1em2Rwb
Name: glycyl-tRNA synthetase 1; endonuclease-mediated mutation 2, Robert W Burgess
MGI ID: MGI:6393282
Synonyms: GarsdeltaETAQ
Gene: Gars1  Location: Chr6:55014992-55056485 bp, + strand  Genetic Position: Chr6, 27.29 cM
Alliance: Gars1em2Rwb page
Mutation
origin
Strain of Origin:  (FVB/NJ x C57BL/6NJ)F1
Mutation
description
Allele Type:    Endonuclease-mediated (Not Specified)
Mutation:    Intragenic deletion
    CRISPR/Cas9 technology generated a 12 bp deletion (bases 12-23) in exon 8. (J:284948)
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)
ht1  Disease Model
involves: C57BL/6NJ * FVB/NJ
 
Phenotypes:
Affected Systems
show or hide all annotated terms
 
behavior/neurological
decreased grip strength
growth/size/body
decreased body weight
muscle
muscular atrophy
nervous system
abnormal axon morphology
abnormal neuromuscular synapse morphology
axon degeneration
decreased nerve conduction velocity
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Key:
disease model   expected model not found
Models:
Human Diseases
ht1
IDs
Expression
In Structures Affected by this Mutation: 2 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Gars1 Mutation:  42 strains or lines available
References
Original:  J:284948 Morelli KH, et al., Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models. J Clin Invest. 2019 Dec 2;129(12):5568-5583
All:  3 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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Funding Information
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last database update
12/17/2024
MGI 6.24
The Jackson Laboratory