Sequence analysis of mice homozygous for this allele showed an A-to-G transition in the start codon, changing it from methionine to valine (p.M1V). The loss of the start codon is predicted to result in an N-terminally truncated protein. (J:37172)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count