A 5.5 kb early retrotransposon element insertion flanked by a 6-bp direct repeat is found in intron 22. This results in skipping of exon 22 or exons 21 and 22 and the production of a truncated transcript. Full length wild-type transcripts are not detected in brains of homozygous mice. (J:211342)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count