Glra1^m1Cpai
Spontaneous Allele Detail

Summary

• Symbol: Glra1^m1Cpai
• Name: glycine receptor, alpha 1 subunit; mutation 1, Christopher J Paige
• MGI ID: MGI:6471171
• Synonyms: Glra1^sh, shaky
• Gene: Glra1 Location: Chr11:55405065-55499024 bp, - strand Genetic Position: Chr11, 33.12 cM
• Alliance: Glra1^m1Cpai page

Mutation origin

• Strain of Origin: 129 and C57BL/6

Mutation description

• Allele Type: Spontaneous (Not Applicable)
• Mutation: Single point mutation
• Mutation details: This allele is the result of a spontaneous missense mutation of a C to A change at position 613 (c.613C>A) producing a glutamine to lysine exchange at amino acid 205 (p.Q205K) but reported as p.Q177K in the extracellular Beta8-Beta9 loop of the alpha1 subunit. This spontaneous mutation arose in the animal colony of Christopher Paige in a mixed 129 and C57BL/6 strain. (J:248717)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

3 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 Glra1 Mutation: 30 strains or lines available

References

• Original: J:248717 Schaefer N, et al., Disruption of a Structurally Important Extracellular Element in the Glycine Receptor Leads to Decreased Synaptic Integration and Signaling Resulting in Severe Startle Disease. J Neurosci. 2017 Aug 16;37(33):7948-7961
• All: 3 reference(s)