Dock8^tm1.1Ccg
Targeted Allele Detail

Summary

• Symbol: Dock8^tm1.1Ccg
• Name: dedicator of cytokinesis 8; targeted mutation 1.1, Christopher C Goodnow
• MGI ID: MGI:6188887
• Gene: Dock8 Location: Chr19:24976898-25179796 bp, + strand Genetic Position: Chr19, 19.91 cM
• Alliance: Dock8^tm1.1Ccg page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:237279
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Humanized sequence, Null/knockout)
• Mutations: Insertion, Single point mutation
• Mutation details: Exon 9 was replaced with a modified exon containing a C-to-T point mutation (c.952C>T) that results in the introduction of a stop codon in place of an arginine codon (p.R318*). Flp-mediated recombination removed and FRT-flanked neomycin resistance cassette inserted into intron 8. The absence of protein expression was confirmed. The mutation is the equivalent of the human UNIPROT:Q8NF50:p.R317* mutation found in some combined immunodeficiency patients. (J:237279)

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 Dock8 Mutation: 101 strains or lines available

References

• Original: J:237279 Janssen E, et al., A DOCK8-WIP-WASp complex links T cell receptors to the actin cytoskeleton. J Clin Invest. 2016 Oct 03;126(10):3837-3851
• All: 6 reference(s)