CRISPR/cas9 mediated recombination created a 647 bp deletion spanning most of exon 2 and part of intron 2. The deletion results in a stop codon seven codons after the breakpoint. Immunofluorescence analysis confirmed the absence of expression in ovaries and liver from E14.5 homozygous embryos. (J:285178)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count