A spontaneous deletion of a single nucleotide in exon 5 results in a frame shift. Northern blot analysis confirmed the reduction in transcript expression along with decreased transcript expression of Gdf1. However, phenotype is rescued by expression of Lass1. (J:172719)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count