A stop codon was inserted at cysteine position 255 in a duplicated exon 7.2 using a "hit and run" targeting strategy. The absence of protein product in brain and pancreatic islets was confirmed immunologically. (J:168245)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count