CRISPR/Cas9 technology generated a proline to threonine substitution at residue 92 (P92T). This was generated to reflect the threonine at residue 92 in humans. (J:271339)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count