Depdc5^em1Pqt
Endonuclease-mediated Allele Detail

Summary

• Symbol: Depdc5^em1Pqt
• Name: DEP domain containing 5; endonuclease-mediated mutation 1, Paul Q Thomas
• MGI ID: MGI:6115603
• Synonyms: Depdc5^FS
• Gene: Depdc5 Location: Chr5:33021045-33151580 bp, + strand Genetic Position: Chr5, 17.35 cM
• Alliance: Depdc5^em1Pqt page

Mutation origin

• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 mediated mutagenesis created a 22 base pair deletion (c77_99del/L23fsX65) resulting in a frameshift in exon 2. CRISPR guides target 5'-TGATGTGAGGAAATACTTT-3' and 5'-GTATTTCCTCACATCAAACT-3'. No difference in transcript level compared to wild-type is seen, however mass spectrometry of parallel reaction monitoring confirmed absence of DEPDC5 peptides indicating a null allele. (J:256299)

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 Depdc5 Mutation: 120 strains or lines available

References

• Original: J:256299 Hughes J, et al., Knockout of the epilepsy gene Depdc5 in mice causes severe embryonic dysmorphology with hyperactivity of mTORC1 signalling. Sci Rep. 2017 Oct 3;7(1):12618
• All: 1 reference(s)