A loxP site was inserted upstream of the single coding exon. A floxed neo cassette was inserted downstream of the coding exon. This allele also contains a G to T transition at nucleotide 299 (GenBank accession HM446523) that results in the non-synonymous variation of valine for glycine at position 92 (G92V). (J:171647)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count