Ccm2^{Gt(RRG051)Byg}
Gene trapped Allele Detail

Summary

• Symbol: Ccm2^{Gt(RRG051)Byg}
• Name: cerebral cavernous malformation 2; gene trap RRG051, BayGenomics
• MGI ID: MGI:3512761
• Synonyms: Ccm2^{Gt(pGt0Lxf)1Dmar}
• Gene: Ccm2 Location: Chr11:6496887-6546744 bp, + strand Genetic Position: Chr11, 4.45 cM
• Alliance: Ccm2^{Gt(RRG051)Byg} page

Vascular malformations in the brains of Ccm2^{Gt(RRG051)Byg}/Ccm2⁺ mice

Show the 1 phenotype image(s) involving this allele.

Mutation origin

• Mutant Cell Line: RRG051
• Germline Transmission: Earliest citation of germline transmission: J:101748
• 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 pGt0Lxf gene trap vector contains a splice acceptor sequence upstream of a Beta-geo (beta-galactosidase/neomycin phosphotransferase II fusion) reporter gene; in this instance the splice acceptor was joined to a cryptic splice donor site in the vector intron, approximately 30 base pairs from the vector's 5' end, that was activated when the vector integrated into exon 6 of the gene. Transcription from the gene's endogenous promoter and splicing of the message yields a fusion mRNA joining endogenous upstream exons to the Beta-geo coding sequence. Beta-galactosidase is expressed in neurons of adult brain, strongly in caudate-putamen, olfactory tubercle, nucleus accumbens, thalamus, hippocampus and cerebellar Purkinje cells and more weakly throughout the remaining grey matter. (J:101748, J:146527)
• Sequence Tags: Sequence tag details (1 tag)

  Tag ID	GenBank ID	Method	Tag Location (trapped strand)*	Select
  RRG051	CC325945 ; (MGI Seq Detail)	5' RACE	Chr11:6539428-6540838 bp (+)
  * GRCm39; (strand of gene trap mutagenesis)

• Genome Context: Genome Browser view of this mutation;

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

Expression

In Structures Affected by this Mutation:

14 anatomical structure(s)

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 Ccm2 Mutation: 48 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:101748 Zawistowski JS, et al., CCM1 and CCM2 protein interactions in cell signaling: implications for cerebral cavernous malformations pathogenesis. Hum Mol Genet. 2005 Sep 1;14(17):2521-31
• All: 8 reference(s)