Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

Symbol:	Dock8pri
Name:	dedicator of cytokinesis 8; primurus
MGI ID:	MGI:3835421
Synonyms:	Dock8S1827P
Gene:	Dock8  Location: Chr19:24976898-25179796 bp, + strand  Genetic Position: Chr19, 19.91 cM
Alliance:	Dock8pri page

Strain of Origin:	C57BL/6JAnu
Project Collection:	APF ENU Mutagenesis

Allele Type:    Chemically induced (ENU) Mutation:    Single point mutation   Mutation details: This mutation was discovered in an ENU mutagenesis screen for mutations that do not interfere with the initial antibody response to an immunogen, but prevent its maturation and persistence. The mutation comprises a T to C transition that replaces an absolutely conserved serine at amino acid position 1827, in the DOCK-homology region 2 (DHR2) domain of the protein, with proline (S1827P). DHR2 is known to bind to G proteins of the Rho family, promoting GTP --> GDP exchange and initiating a variety of cellular responses. The S1827P substitution is predicted to disrupt the structure of DHR2 lobe B alpha-helix 6 and thus to interfere with its GTP --> GDP exchange function. (J:155516) Inheritance:    Recessive

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

1 anatomical structure(s)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 4 strains available      Cell Lines: 0 lines available
Carrying any Dock8 Mutation:	103 strains or lines available

Original:	J:155516 Randall KL, et al., Dock8 mutations cripple B cell immunological synapses, germinal centers and long-lived antibody production. Nat Immunol. 2009 Dec;10(12):1283-91
All:	8 reference(s)