ENU induced an A to G transition in exon 1 that results in the amino acid substitution of glycine for glutamic acid at position 26 (E26G). This mutation alters a conserved hydrophilic motif that forms the N-terminus after the signal peptidase cleavage. Expression level and localization are not disrupted. This allele is hypomorphic. (J:191772)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count