Primary Identifier | MGI:6402836 | Allele Type | Spontaneous |
Attribute String | Null/knockout | Gene | Enpp1 |
Inheritance Mode | Recessive | Strain of Origin | Jcl:ICR |
Is Recombinase | false | Is Wild Type | false |
molecularNote | This spontaneous G>T mutation in intron 2 at the exon 2-intron 2 boundary, which changes splice donor site G-GT to a non-functional G-TT sequence (c.259+1G>T), was found in Jcl:iCR closed colony mice. The mutation results in an alternative splicing event skipping exon 2, which leads to a frameshift and premature stop codon. |