Exon 4 and a 5 end portion of intron 4 were replaced by a cassette containing the cDNA for human PTH1R residues Val-26 to Met-593 with an HA tag replacing the segment Tyr88-Glu96, followed by a TGA stop codon and a transcription termination/polyadenylation sequence from the rabbit beta globin gene and then a self-deleting neomycin resistance gene, which was self-excised. Splicing of the expressed transcript results in mouse exon 3 being joined at the codon corresponding to Leu25 in the mouse Pth1r to the codon for Val26 in the human cDNA sequence. Mouse exon 3 encodes residues Met1-Leu25, which includes the signal sequence. (J:340805)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count