ENU mutagenesis induced a T-to-A transversion at position 2116 on cDNA (ENSMUST00000019248) in exon 7 and results in the amino acid substitution of cysteine with a stop codon at position 511 (p.C511*). (J:104190)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count