The mutation in jck mice has been identified as a double nucleotide substitution (c.1341G>T and c.1343G>T). While c.1341G>T is a silent mutation in the last base of the leucine codon at position 447, the c.133G>T mutation in the second base of evolutionary conserved glycine codon 448 in the C-terminal domain of the protein results in it changing to valine (p.G448V). (J:79896)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count