A single C-to-A point mutation was identified in exon 4, causing a change of alanine codon 96 to glutamic acid (p.A98E). (J:161692, J:222308)
Basic Information
(WC/ReJ KitlSl x B6.D2-KitlSl-d/J)F1-KitlSl/KitlSl-d/J
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count