Grin2d^em10Frk
Endonuclease-mediated Allele Detail

Summary

• Symbol: Grin2d^em10Frk
• Name: glutamate receptor, ionotropic, NMDA2D (epsilon 4); endonuclease-mediated mutation 10, Wayne N Frankel
• MGI ID: MGI:8245572
• Gene: Grin2d Location: Chr7:45481307-45520708 bp, - strand Genetic Position: Chr7, 29.54 cM
• Alliance: Grin2d^em10Frk page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Conditional ready, Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: A cassette was inserted between exons 7 and 8 with a LoxP-Stop-LoxP upstream of a mutated exon in which a CG nucleotide pair was replaced with AA resulting in a single amino acid change of valine to isoleucine at amino acid 664 along with a nonsynonymous nucleotide substitution at A663 to create a HypCH4V restriction site for genotyping (J:372150)

Disease models

Expression

In Structures Affected by this Mutation:

5 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 Grin2d Mutation: 36 strains or lines available

References

• Original: J:372150 Yam M, et al., A mouse model of GRIN2D developmental and epileptic encephalopathy recapitulates the human disease. Brain. 2025
• All: 1 reference(s)