The I1060T point mutation is located in exon21 of mouse Npc1 gene. This Npc1 point mutation mouse model was established by introduce a T>C transversion at the 138th nucleotide of exon21. (J:238766)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count