This allele carries 109 CAG repeat units, with 111 glutamines, in the first exon of the endogenous gene and a floxed neo cassette in the promoter. It is a hypomorphic allele, expressing reduced levels of the mutant protein. (J:52440, J:72915)
Basic Information
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Nucleotide repeat expansion
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count