CRISPR/cas9 mediated recombination created a 246 bp deletion around exon 3, including 88bp from exon 3 and 12bp from exon 4 resulting in an in-frame mutation and premature stop codon at the 85th amino acid. This is predicted to disrupt only the transmembrane isoform. RT-PCR analysis confirmed the absence of the transmembrane form and presence of the secreted form. (J:287619)
Basic Information
(C57BL/6NJcl x DBA/2NJcl)F2
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count