The D854T mutation was inserted into the exon encoding the 7 transmembrane domain. Transient expression of cre recombinase removed a floxed neo included in the targeting vector. Expression of RNA in mutant cerebellum was similar to wild-type. Protein expression in mutants was normal. (J:101301)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count