A loxP site flanked neomycin resistance gene cassette was inserted into intron 4. A substitution was engineered in exon 4 that changed codon 8 from tyrosine to phenylalanine (p.Tyr8Phe or p.Y8F). This mutation disrupts the cytoplasmic immunoreceptor tyrosine-based inhibitory motif (ITIM) of the peptide, effectively creating a knock-out. The neo cassette was removed through subsequent cre-mediated recombination. (J:252851)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count