CRISPR/cas9 genome editing is used to introduce loxP sites to introns 3 and 7, flanking part of the RNA recognition motif (RRM) of the gene. Cre-mediated recombination removed exons 4 to 7. The mutation is predicted to result in a premature stop codon. (J:282807)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count