ENU mutagenesis induced a T to C mutation in the splice donor consensus site of exon 21; Chr19: 6,848,180 (- strand) (build NCBI38/mm10). The point mutation results in a 5 nt deletion in the transcript and a frame-shift with a predicted premature termination at codon 1286. Western blot analysis confirmed the absence of protein expression in the spleen, thymus, lymph nodes and kidney. (J:230618)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count