CRISPR/Cas9 endonuclease mediated genome editing is used to introduce the the Y155Y and L156R point mutations. Murine L156R is a missense mutation corresponding to the clinical L155R mutation associated with GM1-gangliosidosis and Mucopolysaccharidosis type IVB (Morquio). (J:94077)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count