Exon 2 and part of exon 3 were deleted using sgRNAs and the CRISPR/Cas9 system. This region contains the common translation initiation codon for two different isoforms of the encoded protein. qRT-PCR validation using intestine tissues showed that no detectable full length transcript is expressed from this allele. (J:243487)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count