A mutation was introduced into exon 8 changing the codon for asparagine at amino acid position 265 into one for serine (N265S) at the same time that a floxed neomycin resistance cassette was inserted into intron 7. The neomycin gene was subsequently removed by cre-mediated excision. This mutation does not change the expression level of this receptor subunit. (J:85526)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count