This mutation, identified by temperature gradient capillary electrophoresis (TGCE) heteroduplex screening for ENU-induced mutations in exon 2 of the gene, comprises a T-to-C transition resulting in replacement of leucine with proline at amino acid position 100 of the protein. Immunoblot analysis of brain extracts with an anti-DISC1 antibody followed by densitometric analysis demonstrates the presence of similar amounts of the major protein isoforms in mutant and wild-type brains. DISC1 is also similarly distributed among subcellular fractions (except the nucleus, which was not analyzed) of mutant and wild-type brains. (J:120634)
Basic Information
(DBA/2JJcl x C57BL/6JJcl)F1
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count