Homologous recombination was used to insert the N180T and N196T mutations into exon 3 in order to eliminate the first and second glycosylation sites. Northern blot demonstrated presence of the mutation does not interfere with transcription. (J:105909)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count