ENU mutagenesis induced a nucleotide transversion that resulted in an amino acid substitution of a stop codon for tyrosine at position 2721 in the complement repeats domain. This mutation results in the exclusion of the transmembrane domain. (J:136795)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count