A spontaneous mutation that arose at The Jackson Laboratory. A c.876G>T transversion causing an glutamic to aspartic acid (p.E292D) amino acid change has been identified. (J:127311)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count