A neomycin selection cassette was used to replace sequence from exons 6, 7, and 8. The deleted region encompassed 268 nucleotides encoding a portion of the catalytic domain. Low levels of a peptide, slightly smaller than normal, were detected by Western blot analysis of extracts obtained from homozygous mutant fetuses. The mutant peptide could not be detected by immunohistochemical analysis of fetal adrenals or in fetal or postnatal brains. (J:54692)
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