An Hprt minigene replaced a 6.0 kb genomic fragment containing the proximal promoter region, the transcription start site, exons 1, 2 and part of 3. Reduced clotting activity in brain and lung microsome sections was shown in in heterozygous mice. (J:33831)
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