A 9 bp deletion (deleting amino acids lysine, proline and glutamine; deltaKPQ) was introduced into exon 26. A floxed thymidine kinase and neo cassette was also inserted into intron 26 but was removed by cre-mediated recombination using a cre recombinase expressing vector. Modification to the transcript was confirmed by RT-PCR. (J:127879)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count