This spontaneous A-to-T transition at chromosome 18 position 45,685,419 (GRCm38) causes a nonsense mutation in the fourth exon changing amino acid 528/793/803 from arginine to a stop codon (NP_536713:p.R528*, ENSMUSP00000067884:p.R793*, NP_001299834:p.R803*). (J:207676, J:222308)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count