A spontaneous mutation in mice carrying Gt(ROSA)26Sortm1(sb11)Njen produces G-to-C transversion that results in the amino acid substitution of aspartic acid with histidine at position 573 (p.D573H). Western blot analysis confirmed protein expression in mouse embryonic fibroblasts. (J:194117)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count