This allele was shown to be allelic to Oca2p by a complementation test. Southern blot analysis of Sst1-digested genomic DNA from mice homozygous for this allele, probed with a 1.0-kb DraIII fragment derived from cDNA clone MC2701, revealed deletion of two exon-bearing fragments (6.9 and 10.0 kb) found in wild-type DNA. The deletion has been shown to result in loss from the transcript of 350 base pairs encompassing nucleotides 2195-2545, derived from exons 20-23, and to produce a frameshift resulting in a protein additonally lacking exon 24-encoded amino acids. The missing amino acids include the last part of transmembrane domain 9 and all of transmembrane domains 10-12. (J:2206, J:32816)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count