ENU mutagenesis generated an A to G transition mutation in the splice donor site downstream of exon 24. This mutation results in the production of a transcript that skips exon 24, translation of this transcript is expected to result in a frame shift and premature termination in exon 25. Whole mount in situ and western blot analysis indicated that wild-type protein expression is greatly reduced in homozygous embryos at E10.5. (J:163196, J:175371)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count