RT-PCR analyses, long-range PCR and sequencing analyses showed that the genomic region from 12 058 849 to 12 070 825 bp on chromosome 18 (build 38), including exon 4 of Cables1, was deleted at the transgene insertion site. A mutant small protein is able to be translated from the mutant allele in HEK293T cells when transfected with a Cables1-TAS expression vector. However, western blotting analysis with anti-Cables1 antibody (M-280) did not specifically detect wild-type or truncated Cables1 protein in brain lysate. (J:206297)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count