Generated by a large-scale ENU mutagenesis screen in RIKEN GSC. This mutation is the result of an A-to-G transition in a conserved Shh enhancer element located in intron 5 of the Lmbr1 gene. The mutation is located 145 bp 5' of the Hx mutation.
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count