A C509S mutation was introduced to exon 13 to destroy one of the three disulfide bridges in the saposin D domain. A neo was removed from intron 14 via transient cre expression. RT-PCR indicated an absence of transcript in mutant mouse brains. (J:94408)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count