Exon 3 was deleted via cre-mediated excision, resulting in a frame-shift mutation and the direct splicing of exon 2 to exon 4, and the production of a truncated protein of approximately 70 amino acids. Western blot of E8.5 lysates confirmed absence of protein in embryos. (J:99637)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count