A neomycin cassette was inserted into the EcoRI site in exon 4, which encodes the alpha helical coiled-coil structure essential for the formation of functional trimeric receptors. Protein was not detectable by immunostaining of liver sections from homozygous mutant animals. (J:39079)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count