Karyotypic analysis revealed an ~40 cM paracentric inversion with the proximal breakpoint at the junction of bands 10B1/10B2 and the distal break at the junction of bands 10C2/10C3. The inversion is 115 kb 5' of the Kitl coding sequence. Northern analysis shows normal transcript size but this allele exerts tissue-specific reduction in Kitl mRNA expression. (J:23593)
Basic Information
(C3H/HeH x 101/H)F1 x STOCK Gdf5bp Myo5ad Bmp5se Hps6ru Hps1ep
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count