The mutation in the bald Mill Hill mouse was determined to be a small 296 bp deletion of genomic DNA that includes part of exon 19 and the 3' UTR of the gene. The mutant allele is expressed in a similar pattern to the wild-type message. However the resulting protein is 150 rather than 130 kDa in size. (J:89321)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count