This spontaneous single base pair deletion of adenine at Chr1:77,390,062 bp (GRCm38) in exon 9 results in a frameshift and premature termination, leaving wild-type sequence up to amino acid 582 then seven novel amino acids, before termination, thereby truncating the cytoplasmic sequence before the kinase or SAM domains. (J:267074)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count