This allele was initially shown to be allelic to Hps5ru2 and Hps5ru2-mr by complementation testing. The insertion of CCGG in codon 900 was identified by sequence analysis and putatively results in a frameshift mutation that precludes the translation of 118 carboxy terminal amino acids. (J:13708, J:81444)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count