CRISPR/Cas9 technology generated a 4 nucleotide deletion (GCCG) in codons 55 and 56 within exon 2, changing the cysteine 55 codon to serine and creating a reading frame shift and premature stop codon after 55 codons (c.del285_288; p.C55Sfs*55). The frame shift deletion does not create a new splice donor site and there is no evidence of alternative splice forms that skip exon 2 and thus is expected to create a null allele. However, antibodies to check for protein expression are not available. (J:307413)
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cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count