Rr29^Dz

A single point mutation, 8545T>A, was induced by ENU treatment in the cis regulatory element (mammals-fish-conserved-sequence 1, Mfcs1) located 1 Mb upstream of the Shh gene it regulates in intron 5 of Lmbr1. Analysis indicates this mutation increases the binding affinity of Hnrnpu for the core DNA element. In situ analysis detected ectopic expression of Shh in limb buds of homozygous mice at E12. (J:150728)