This spontaneous guanine to adenine substitution in exon 8 replaces a cysteine with a premature stop codon that is predicted to impact both Rorb isoforms ENSMUST00000040153.15 (Rorb-201) and ENSMUST00000112832.8 (Rorb-202). Lower than normal levels of transcript are found in brain and lower than normal levels of the Rorb2 transcript are found in the retina (J:337403)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count