CRISPR/Cas9 technology generated a G to T change (in codon 7; GAG to TAG) to create a stop codon in exon 1 and a premature transcript. Two founders (#5329 and 5349) were generated but line 5349 was selected for analysis. qRT-PCR and Western blot confirmed the absence of transcript and protein in the liver. (J:305392)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count