This allele harbors an A>G substitution homologous to a reported case ("IP-TMC") of human incontinentia pigmenti (NM_001099857.3:c.1259A>G/p.(*420Trpext*27)). This allele reproduces the associated stop codon alteration, but it does not introduce an extension of 27 amino acids as in humans. Instead, it adds, 5' in-frame, an immediate HA tag. (J:94077)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count