| Primary Identifier | MGI:1856674 | Allele Type | Spontaneous |
| Gene | Mlph | Inheritance Mode | Recessive |
| Strain of Origin | C57BR | Is Recombinase | false |
| Is Wild Type | false |
| molecularNote | This allele has a C-to-T transition at mRNA nucleotide position 266. This introduces a stop codon at arginine codon 31 (p.R31*) in the sequence of the normally spliced transcript and it also creates a new G-GT splice donor site in exon 2. Use of this alternative splice site yields a transcript with an in-frame 21 base pair deletion that deletes 7 amino acids from the translated protein. Northern blots failed to detect this size difference and did not find any change from normal in transcript expression level. Sequence analysis failed to detect any wild-type transcripts. |
