This ENU-induced mutation was isolated in a screen for increased plasma urea levels as part of the Munich ENU Mutagenesis Project. The genetic change is a recessive T-to-C mutation within the gene, leading to an L423P amino-acid substitution in the conserved homeobox domain of the encoded protein. (J:237899)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count