This spontaneous mutation, discovered in a production colony at The Jackson Laboratory, was shown to be allelic with the original Jackson circler mutation by failure of the two alleles to complement one another. A G-to-T transversion occurs at coding nucleotide position 1894 (c.1894G>T) that converts the glycine codon at amino acid residue 632 to a stop codon (p.G632*). The resulting protein is reduced in length by 28%. (J:113021, J:137716)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count