Summary | Mutation origin | Mutation description | Find Mice (IMSR) | References

Symbol:	Grin2aem2Frk
Name:	glutamate receptor, ionotropic, NMDA2A (epsilon 1); endonuclease-mediated mutation 2, Wayne N Frankel
MGI ID:	MGI:6719495
Synonyms:	Grin2aem1(S644G)Frk, Grin2aS644G
Gene:	Grin2a  Location: Chr16:9385762-9813424 bp, - strand  Genetic Position: Chr16, 5.28 cM
Alliance:	Grin2aem2Frk page

Strain of Origin:

C57BL/6NJ

Allele Type:    Endonuclease-mediated (Humanized sequence) Mutation:    Nucleotide substitutions   Mutation details: CRISPR/cas9 genome editing is used to insert a a S644G missense mutation (AGT to GGT) in the highly conserved third transmembrane region (TM3). This mutation has been identified in a patient with developmental and epileptic encephalopathy (DEE). (J:307188)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Grin2a Mutation:	66 strains or lines available

Original:	J:307188 Amador A, et al., Modelling and treating GRIN2A developmental and epileptic encephalopathy in mice. Brain. 2020 Jul 1;143(7):2039-2057
All:	1 reference(s)