A 6.8-kb genomic DNA segment containing exons 11-21 has been replaced with a cassette containing a EN2-SA-internal ribosomal entry site (IRES) followed by a beta-galactosidase-neomycin phosphotransferase (-neo) fusion gene (betageo). A loxP-flanked selection cassette containing Pgk-neo and MC1 tk genes was deleted by cre recombinase. The deleted segment encodes the predicted IIS2 and IIS4 transmembrane domains and the third predicted intracellular domain; the modification also is predicted to cause a frame-shift upon splicing of exon 10 to exon 22. RT-PCR analysis of RNA from cerebellum, cortex, olfactory bulb, and thalamus of homozygous mutant mice confirmed that no full-length Cacna1i mRNA is generated. (J:175607)
Basic Information
Insertion, Intragenic deletion
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count