A hypomorphic allele was generated by inserting a neo cassette flanked by loxP sites 5' of exon 2, which encodes the basic-HLH domain essential for dimerization and DNA binding. A third loxP site was inserted 3' of exon 2. The ES cell line and library used contained the Ahrd allele. Western blot analysis confirmed decreased expression in liver, kidney, heart, lung and spleen from homozygous mice. (J:94465)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count