The mutation is a a 33.4 Kb deletion encompassing the 5' region and exon 1 of the gene. Immunostaining of coronal sections of E14.5 embryo heads showed that no detectable protein is expressed from this allele. (J:223288)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count