The mutation is an intergenic deletion spanning approximately 13.48 Kb of the gene (7.89 Kb upstream and 5.36 Kb downstream of exon 3, inclusive). The mutation is predicted to cause a frameshift in the translation of the encoded protein resulting in truncation after 91 amino acids. QRT-PCR confirmed reduced transcript expression at E10.5. (J:194385)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count