The Tigrou mutation, discovered in a G1 daughter of an ENU-mutagenized male mouse, corresponds to a G-to-T transversion at nucleotide position 1485 of the gene, in the fifth of 23 total exons. It results in replacement of the glutamic acid codon at position 469 by a stop codon (E469Ter), which would truncate the protein before the fifth metal binding domain. It is unknown whether this truncated protein is expressed in mutant mice. (J:138687, J:188598)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count