This phenotypic mutant was identified in an ENU mutagenesis screen. A deletion of exons 3-6 was detected. Authors were unable to bridge the deleted junction, suggesting a translocation or inversion may be present. Western blot analysis of brain tissue confirmed the absence of protein expression in adult homozygous mutant mice. (J:221049)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count