A failed complementation test with bouncy 3 Jackson proved the two allelic and exome sequencing identified a single G-to-A transversion at chromosome 18 position 45,685,419 (GRCm38) in bouncy 6 Jackson, which causes a nonsense mutation changing tryptophan to a stop codon at residue 345 in the last exon (NP_536713:p.W345*, ENSMUSP00000067884:p.W610*, NP_001299834:p.W620*). (J:215011, J:222308)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count