Gars1^em2Rwb
Endonuclease-mediated Allele Detail

Summary

• Symbol: Gars1^em2Rwb
• Name: glycyl-tRNA synthetase 1; endonuclease-mediated mutation 2, Robert W Burgess
• MGI ID: MGI:6393282
• Synonyms: Gars^deltaETAQ
• Gene: Gars1 Location: Chr6:55014992-55056485 bp, + strand Genetic Position: Chr6, 27.29 cM
• Alliance: Gars1^em2Rwb 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)
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ht1  Disease Model	Gars1^em1Rwb/Gars1^em2Rwb	involves: C57BL/6NJ * FVB/NJ

Phenotypes:

Affected Systems	ht1
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
Charcot-Marie-Tooth disease type 2D IDs Charcot-Marie-Tooth disease type 2D       DOID:0110164 ICD10CM:G60.0 OMIM:601472 ORDO:99938 Close	√

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)