Dgkd^{Gt(RRT600)Byg}
Gene trapped Allele Detail

Summary

• Symbol: Dgkd^{Gt(RRT600)Byg}
• Name: diacylglycerol kinase, delta; gene trap RRT600, BayGenomics
• MGI ID: MGI:3514143
• Synonyms: Dgkd^{Gt(pGTlxf)Byg}
• Gene: Dgkd Location: Chr1:87781009-87872902 bp, + strand Genetic Position: Chr1, 44.44 cM
• Alliance: Dgkd^{Gt(RRT600)Byg} page

Mutation origin

• Mutant Cell Line: RRT600
• Germline Transmission: Earliest citation of germline transmission: J:126380
• Parent Cell Line: Other (see notes) (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Gene trapped (Null/knockout, Reporter)
• Mutation: Insertion of gene trap vector Vector: pGT0Lxf Vector Type: gene trap
• Mutation details: The gene trap cassette inserted into the first intron of the gene. RT-PCR analysis indicates that expression of the long splice form is absent from the forebrain and midbrain but faint expression is seen in the cerebellum. Expression of a second splice form initiated in exon 2 is relatively unaffected. (J:126380)
• Sequence Tags: Sequence tag details (1 tag)

  Tag ID	GenBank ID	Method	Tag Location (trapped strand)*	Select
  RRT600	CL265510 ; (MGI Seq Detail)	5' RACE	Chr1:87781075-87781175 bp (+)
  * GRCm39; (strand of gene trap mutagenesis)

• Genome Context: Genome Browser view of this mutation;

  5 gene trap insertions have trapped this gene; View all gene trap sequence tags in this region

Disease models

Expression

In Mice Carrying this Mutation:	3 assay results
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 Dgkd Mutation: 54 strains or lines available

Notes

All BayGenomics gene trap mutations were generated in either CGR8 or E14TG2a (129P2/OlaHsd) parental ES cell lines, with the majority in subline E14TG2a.4. The specific ES cell line in which each mutation was made is not specified.

References

• Original: J:126380 Leach NT, et al., Disruption of diacylglycerol kinase delta (DGKD) associated with seizures in humans and mice. Am J Hum Genet. 2007 Apr;80(4):792-9
• All: 2 reference(s)