Primary Identifier | MGI:3609880 | Allele Type | Spontaneous |
Attribute String | Hypomorph | Gene | Lamc2 |
Inheritance Mode | Recessive | Strain of Origin | 129X1/SvJ |
Is Recombinase | false | Is Wild Type | false |
molecularNote | Sequencing of mutant genomic DNA revealed the presence of a single murine leukemia virus long terminal repeat (MLV LTR) insertion of 560 bp within the eighteenth intron. Northern blot and RT-PCR analysis detected an aberrant transcript that retains intron 18 and the LTR, and introduces a TAG translational stop codon in intron 18. However, a correctly spliced WT transcript is also produced at low abundance suggesting that this allele acts as a hypomorph. A noncomplementation test with a null allele of this gene further confirmed that the insertion is the cause of the mutant phenotype. |