This mutation was isolated during the production of an unrelated transgenic line. Both the hb mutation and the transgene insertion site map to a similar chromosomal location, suggesting that the transgene insertion disrupts the normal function of a gene resulting in the phenotype. The transgene contains the human ACTB promoter, exon 1 and intron 1 and a neomycin resistance cassette. A 648 kb deletion on chromosome 7 results in the loss of Gpr26, Cpxm2 and Chst15) and an indirect long range effect on the expression of neighboring genes including Hmx3, Hmx2 and Nkx1.2. (J:197180, J:199713)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count