Ep400^em1Sono
Endonuclease-mediated Allele Detail

Summary

• Symbol: Ep400^em1Sono
• Name: E1A binding protein p400; endonuclease-mediated mutation 1, Shinji Ono
• MGI ID: MGI:7408593
• Synonyms: Ep400^P2715L line#1
• Gene: Ep400 Location: Chr5:110812239-110918583 bp, - strand Genetic Position: Chr5, 53.69 cM, cytoband F
• Alliance: Ep400^em1Sono page

Mutation origin

• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a C to T change in exon 47 resulting in a proline to leucine substitution at amino acid 2715. This is a missense variant identified in a Japanese family with schizophrenia. (J:314990)

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 Ep400 Mutation: 140 strains or lines available

References

• Original: J:314990 Morimoto Y, et al., A unique missense variant in the E1A-binding protein P400 gene is implicated in schizophrenia by whole-exome sequencing and mutant mouse models. Transl Psychiatry. 2021 Feb 18;11(1):132
• All: 1 reference(s)