Primary Identifier | MGI:4838011 | Allele Type | Spontaneous |
Attribute String | Hypomorph | Gene | Col4a4 |
Inheritance Mode | Recessive | Strain of Origin | NONcNZO4/Lt |
Is Recombinase | false | Is Wild Type | false |
molecularNote | The mutation was identified as a G to A subsitition in the first base of intron 30. As a result exon 30 is skipped, however, the mRNA reading frame is maintained. Protein and immunohistochemical analysis indicates some alpha4 is produced and forms low levels of collagen IV (alpha3, alpha4, alpha5) trimers. |