Two sgRNAs (5'-GGTCCGCACCATCGACGGCTCC-3' and 5'-GGAGCTGCGCGAGCGGGTCT-3') were used to target the start of the coding region of exon 1 with CRISPR/Cas9. A number of different deletions were found, with this allele, number 10, representing a 277 bp deletion removing part of the 5' UTR and the start of the coding region (-180 to +97). The absence of transcripts from this allele was confirmed by qPCR and the absence of peptides by Western blot analysis of thymus and brain samples. (J:241384, J:243187)
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cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count