A point mutation was introduced into exon 7, resulting in a valine to serine substitution at residue 290 (V290S). Exon 7 encodes the M2 channel domain. Cre-mediated recombination removed a floxed neo that was inserted into intron 5. PCR confirmed recombination and RT-PCR indicated reduced levels of mRNA in mutants. (J:90942)
Basic Information
129S1/Sv-Oca2+ Tyr+ Kitl+
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count