ENU mutagenesis induced an A to C transversion at 47016337 bp on chromosome 14 within Samd4 (Fig. 3B). The mutation occurs at 994 bp within the transcript (Vega OTTMUST00000057924) and leads to a histidine to proline substitution at amino acid 86 of the 711 amino acid isoform 1 and the 623 amino acid isoform 2. (J:208616)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count