CRISPR/Cas9 technology targeting the region between c.379G and c.396C generated deletion alleles. This record represents the pooled data of two lines, one containing a 2 bp deletion and one an 8 bp deletion in this region resulting in a frameshift and premature stop codon. This mimics the common mutation in humans c.391dup (p.Met131Asnfs*3). (J:326462)
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cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count