CRIPSR/Cas9 technology generated an approximate 49 kb deletion comprising parts of exon 1 (including the initiation codon), exon 2, and the entire intron between these two exons. RT-qPCR showed that homozygotes exhibit significantly lower RNA transcript levels. (J:291232)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count