This mutation was induced by treating a male mouse with isopropyl methane sulfonate. Sequencing revealed a missense T-to-A transversion in the fourth transmembrane domain, causing a leucine to glutamine substitution. Western blot showed a 167-kDa protein in both mutants and wild-types. (J:92612)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count