Nucleotide substitution: C3251T. Amino acid replacement: H893Y. This mutation is in the cytoplasmic domain of the protein.
C26840530T
C3251T
H893Y | Tl-PB; H893Y | Tl-PC; H893Y | Tl-PD
H893Y
This mutation is in the cytoplasmic domain of the protein.
Recessive.
Embryos from homozygous females are weakly dorsalised.
Moderate dorsalization of embryo.
Completely penetrant phenotype.