Otud7a^em1Cpsc
Endonuclease-mediated Allele Detail

Summary

• Symbol: Otud7a^em1Cpsc
• Name: OTU domain containing 7A; endonuclease-mediated mutation 1, Christian Schaaf
• MGI ID: MGI:6108137
• Gene: Otud7a Location: Chr7:63094499-63408776 bp, + strand Genetic Position: Chr7, 34.52 cM
• Alliance: Otud7a^em1Cpsc page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: Two single guide RNA (sgRNA) sequences were designed to delete a portion of exon 4, all of exon 5 and a portion of exon 6 of the gene. Deletion of that region (encoding most of the OTU deubiquitinase domain) creates a premature stop codon in exon 8. No off-target mutations were found (via sequencing the top fifteen off-target candidates for each sgRNA predicted by CRISPR design tool). (J:259730)

Disease models

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Find Mice (IMSR)

• 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 Otud7a Mutation: 39 strains or lines available

References

• Original: J:259730 Yin J, et al., Otud7a Knockout Mice Recapitulate Many Neurological Features of 15q13.3 Microdeletion Syndrome. Am J Hum Genet. 2018 Feb 1;102(2):296-308
• All: 1 reference(s)