Gars1^C201R
Chemically induced Allele Detail

Summary

• Symbol: Gars1^C201R
• Name: glycyl-tRNA synthetase 1; Cys201Arg
• MGI ID: MGI:3760297
• Synonyms: GENA201, GENA202
• Gene: Gars1 Location: Chr6:55014992-55056485 bp, + strand Genetic Position: Chr6, 27.29 cM
• Alliance: Gars1^C201R page

Mutation origin

• Strain of Origin: BALB/cAnN
• Project Collection: Harwell ENU Mutagenesis

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: ENU mutagenesis generated a T to C transition at base pair 456 that results in an amino acid substitution of R for C at residue 201 (C201R). Enzymatic assays confirmed a 60% drop in activity in extracts from P15 homozygotes. (J:149830)
• Inheritance: Dominant

Disease models

Expression

In Structures Affected by this Mutation:

6 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Gars1 Mutation: 42 strains or lines available

References

• Original: J:149830 Achilli F, et al., An ENU-induced mutation in mouse glycyl-tRNA synthetase (GARS) causes peripheral sensory and motor phenotypes creating a model of Charcot-Marie-Tooth type 2D peripheral neuropathy. Dis Model Mech. 2009 Jul-Aug;2(7-8):359-73
• All: 20 reference(s)