| Primary Identifier | MGI:3664783 | Allele Type | Spontaneous |
| Gene | Grm1 | Inheritance Mode | Recessive |
| Strain of Origin | BALB/cPas | Is Recombinase | false |
| Is Wild Type | false |
| molecularNote | This mutation arose at the Institut Pasteur. Genetic mapping localized it to the vicinity of Grm1, of which it was shown to be an allele by its failure to complement a targeted mutation of the gene. A larger than wild-type transcript was amplified by RT-PCR from mutant cerebella; sequence analysis of the cDNA revealed a 139-base pair insertion between exons 4 and 5. A 190-base pair LTR fragment interrupting intron 4 was found to alter splicing of the transcript to create a new exon comprising 23 bp from the intron and 116 bp from the LTR fragment, including an in-frame termination codon. No wild-type transcript was amplified by PCR and no immunoreactive protein was detected by western blot or immunohistochemical analysis of homozygous mutant cerebella. |
