This mutation, identified by its phenotype among G3 progeny of an ENU mutagenized male mouse, is a G to A transition at nucleotide position 2421 (variant 1; Genbank accession NM_146146), in the 12th of the gene's 18 exons. It results in the replacement of a tryptophan codon at amino acid position 623 by a stop codon (W623Ter), which truncates the receptor by 539 amino acids at its C terminus. (J:140985)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count