Exons 9 and 10, the latter encoding the heme-binding domain, were replaced with a PGK-neo selection cassette. Transcript was reported to be undetectable in homozygous mutant mice. Neither an immunoassay nor HPLC fractionation followed by a competitive binding assay could detect the enzymatic product, 24,25-dihydroxyvitamin D, of the encoded protein in homozygous mutant mice. (J:63457)
Basic Information
Insertion, Intragenic deletion
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count