| Primary Identifier | MGI:1856127 | Allele Type | Spontaneous |
| Gene | Oca2 | Inheritance Mode | Recessive |
| Strain of Origin | C3H/HeJ | Is Recombinase | false |
| Is Wild Type | false |
| molecularNote | 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. |
