This ENU induced mutant has a G-to-A transition at chromosome 17 position 15,545,085 (GRCm38) which causes a change in amino acid 478 from glutamine to a premature stop codon (p.Q478*). Mutant germ cells produce a truncated protein detected by an antibody that detects the N-terminal domains. (J:222308, J:250814)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count