This spontaneous mutation was shown to be an allele of Hpsru-2 by complementation testing, and thus an allele of Hps5ru2. Subsequent sequence analysis identified the replacement of G with TT in codon 757, putatively resulting in a frameshift mutation that precludes the translation of 311 carboxy terminal amino acids. Northern blot analysis indicated that the mutation did not affect the expression pattern of the gene. (J:81444)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count