The mutation is a deletion of approximately 150kb encompassing most of the Ddr2 gene, of which genomic PCR analysis failed to amplify exons 1-17; exon 18 of this gene and the final exon of the proximal gene, Hsd17b7, both were amplified. (J:134371)
Basic Information
BKSChpLt.Cg-Tg(Ins2-Cpe)1Lt Cpefat/LtJng
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count