The underlying mutation responsible for the phenotype in the fierce mouse was identified as a deletion in the Nr2e1 gene. The genomic deletion was confirmed by Southern analysis and no transcript was detectable by Northern analysis in homozygous mutant animals. Presence of a human BAC transgene containing the NR2E1 gene rescues the phenotype of mice homozygous for the fierce mutation. J:99431 (J:71869, J:99431)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count