CRISPR/Cas9 technology introduced a C to T nonsense mutation at position 1054 (c.1054C>T) in exon 16 causing glutamine 352 to be replaced with a premature stop codon (Q352X). Homozygous mice show reduced transcript levels in various tissues. (J:294634)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count