The sequence defect underlying this mutant phenotype was identified a 7.8 kb insertion into intron 13 of the gene. The insertion contains repetitive elements similar to the T cell receptor locus. Northern analysis from cerebellum, heart and brain failed to detect any transcript using a probe from exons 16-19. However, transcript was detected in testis at reduced levels. (J:74929)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count