A spontaneous mutation that arose in a sib-mated stock at Edinburgh in 1948. The mutation in the ic mouse was identified as a transition (523C>T) that introduces a premature stop codon at the glutamine codon at position 175 (p.Q175*).
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count