Primary Identifier | MGI:1857821 | Allele Type | Spontaneous |
Attribute String | Null/knockout | Gene | Pla2g2a |
Inheritance Mode | Dominant | Strain of Origin | C57BL/6J |
Is Recombinase | false | Is Wild Type | false |
description | 129 substrains, C57BL/6J and BTBR carry this inbred strain variant allele. A mutation in the Apc gene of the mouse causes multiple intestinal adenomas in the C57BL/6J strain on which it arose. In crosses with other strains, the number of tumors is reduced. A locus controlling about 50% of genetic variation in tumor number has been identified as Pla2g2a. |
molecularNote | Insertion of thymidine at position 208 (position 166 from the ATG) results in a frameshift that creates a stop codon 13 amino acids downstream in exon 4. The mutation causes the loss of a BamHI restriction site and a defective protein. |