ENU mutagenesis induced a nucleotide substitution(s) that results in the amino acid substitution of a stop codon for arginine at position 74 (R74X). The absence of protein expression was confirmed by western blot analysis on long bone extracts. (J:173678)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count