CRISPR/Cas9 mediated recombination deleted a 734 bp region (mm9; chr9:71822812-71823548) of an enhancer element (named hs623) in an intron of the locus. RTqPCR analysis determined that expression of the short isoforms (3 and 4) is reduced in the medial ganglionic eminence of homozygous mice but, expression of the long isoforms (1 and 2) is not reduced. (J:264806)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count