This mutation was identified by ENU mutagenesis screen performed with Mpltm1Wsa homozygous mice to identify mutations that suppress thrombocytopenia and/or stem cell defects. A single base pair deletion disrupting the splice acceptor site upstream of exon 16 causes aberrant transcription resulting in reduced protein products. (J:136262)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count