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Gene trapped Allele Detail
Symbol: Ccm2Gt(RRG051)Byg
Name: cerebral cavernous malformation 2; gene trap RRG051, BayGenomics
MGI ID: MGI:3512761
Synonyms: Ccm2Gt(pGt0Lxf)1Dmar
Gene: Ccm2  Location: Chr11:6546887-6596744 bp, + strand  Genetic Position: Chr11, 4.45 cM
Vascular malformations in the brains of Ccm2Gt(RRG051)Byg/Ccm2+ mice

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

Mutant Cell Line:  RRG051 (BayGenomics)
Germline Transmission:  Earliest citation of germline transmission: J:101748
Parent Cell Line:  Other (see notes) (ES Cell)
Strain of Origin:  129P2/OlaHsd
Allele Type:    Gene trapped
Mutation:    Insertion of gene trap vector     Vector: pGT0Lxf     Vector Type: gene trap
Mutation detailsThe 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)
Genome Context: 
Genome Browser view of this mutation
View phenotypes for all genotypes (concatenated display).
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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:  31 strains or lines available
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.

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)

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MGI 6.01
The Jackson Laboratory