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| Nomenclature |
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Symbol:
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Ccm2Gt(RRG051)Byg
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Name:
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cerebral cavernous malformation 2;
gene trap RRG051, BayGenomics
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MGI ID: |
MGI:3512761 |
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Synonyms: |
Ccm2Gt(pGt0Lxf)1Dmar |
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Gene:
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Ccm2
Location:
Chr11:6546887-6596744 bp, + strand
Genetic Position: Chr11,
4.45 cM
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Vascular malformations in the brains of Ccm2Gt(RRG051)Byg/Ccm2+ mice
Show the 1 image(s) involving this allele.
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Mutation
origin |
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Mutant Cell Line:
| RRG051 (BayGenomics) |
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Germline Transmission:
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Earliest citation of germline transmission:
J:101748
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Parent Cell Line:
| Other (see notes) (ES Cell) |
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Strain of Origin:
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129P2/OlaHsd
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Mutation
description |
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Allele
Type: | |
Gene trapped |
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Mutation: | |
Insertion of gene trap vector Vector: pGT0Lxf Vector Type: gene trap |
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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)
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Sequence Tags: |
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Sequence tag details (1 tag)
| Tag ID | GenBank ID | Method |
Tag Location (trapped strand)* | Select |
* GRCm38
(strand of gene trap mutagenesis) |
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Genome Context: |
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Genome Browser view of this mutation
Blue line marks
approximate position of gene trap insertion
48 gene trap insertions have trapped this gene
View all gene trap sequence tags in this region
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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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.
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| References |
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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
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All: |
8 reference(s)
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Analysis Tools
