Gria3^em1Wthg
Endonuclease-mediated Allele Detail

Summary

• Symbol: Gria3^em1Wthg
• Name: glutamate receptor, ionotropic, AMPA3 (alpha 3); endonuclease-mediated mutation 1, Benjamin Davies
• MGI ID: MGI:5898442
• Synonyms: Gria3^A653T
• Gene: Gria3 Location: ChrX:40489731-40767478 bp, + strand Genetic Position: ChrX, 23.19 cM
• Alliance: Gria3^em1Wthg page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:250314
• Parent Cell Line: JM8.F6 (ES Cell)
• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Endonuclease-mediated (Not Specified)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/Cas9 targeting introduced nucleotide substitution(s) that result(s) in the amino acid substitution of threonine for alanine at position 647 (A647T). This is equivalent to the human A653T mutation. (J:250314)

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 Gria3 Mutation: 10 strains or lines available

References

• Original: J:250314 Davies B, et al., A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disability. Hum Mol Genet. 2017 Oct 15;26(20):3869-3882
• All: 1 reference(s)