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

Symbol:	Dock8cpm
Name:	dedicator of cytokinesis 8; captain morgan
MGI ID:	MGI:3835422
Gene:	Dock8  Location: Chr19:24976898-25179796 bp, + strand  Genetic Position: Chr19, 19.91 cM
Alliance:	Dock8cpm page

Strain of Origin:	C57BL/6JSfdAnu
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 modifies the splice donor sequence of exon 20, resulting in aberrant mRNA splicing between cryptic splice donors and the normal exon 21 splice acceptor. cDNA sequence analysis has identified the abnormal splice products: frameshifted mRNAs containing premature translation stop codons that terminate the protein before the DOCK-homology region 2 (DHR2) domain. DHR2 is known to bind to G proteins of the Rho family, promoting GTP --> GDP exchange and initiating a variety of cellular responses. (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:	5 reference(s)