A neomycin resistance gene was inserted into exon 7, which is within the first conserved domain that is found in all family members. RT-PCR analysis confirmed that a transcript lacking exon 7 was expressed from this allele, but both immunoblot analysis, and immunoprecipitation, followed by immunoblot analysis with purified antibodies directed to the N terminus of indicated that neither a full-length nor a truncated Mtgr1 protein was produced at detectable levels. (J:102172)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count