This mutation is a 1087 bp deletion that removes Adprhl1 exons 3 and 4. While the full length protein is not expressed, expression of two smaller isoforms of the gene is unaffected. (J:237616, J:292155)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count