Dscaml1^em1Mhos
Endonuclease-mediated Allele Detail

Summary

• Symbol: Dscaml1^em1Mhos
• Name: DS cell adhesion molecule like 1; endonuclease-mediated mutation 1, Mikio Hoshino
• MGI ID: MGI:7425257
• Synonyms: Dscaml1^A2105T
• Gene: Dscaml1 Location: Chr9:45338735-45665011 bp, + strand Genetic Position: Chr9, 24.84 cM, cytoband B
• Alliance: Dscaml1^em1Mhos page

Mutation origin

• Strain of Origin: (C57BL/6 x C3H)F1

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a G to A change at position 6307 (c.6307G>A) resulting in an alanine to threonine substitution at amino acid 2103 (p.A2103T), reported as p.A2105T. This single nucleotide substitution has been identified in human epilepsy. (J:324866)

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 Dscaml1 Mutation: 74 strains or lines available

References

• Original: J:324866 Hayase Y, et al., Down syndrome cell adhesion molecule like-1 (DSCAML1) links the GABA system and seizure susceptibility. Acta Neuropathol Commun. 2020 Nov 30;8(1):206
• All: 1 reference(s)