A hypomorphic allele was generated by the deletion of the proximal epiblast enhancer (PEE), a 2 kb element located about 10 kb upstream of the first exon. The PEE element was initially replaced with a floxed PGK-hygro cassette that was subsequently removed in vitro, leaving a single loxP in its place. (J:84300)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count