| Primary Identifier | MGI:1856966 | Allele Type | Spontaneous |
| Attribute String | Hypomorph | Gene | Cpox |
| Inheritance Mode | Recessive | Strain of Origin | Not Specified |
| Is Recombinase | false | Is Wild Type | false |
| description | The original mouse strain also contained a spontaneous A to G transition in Crybg3 that results in the amino acid substitution of aspartic acid for asparagine at position 744 (D744N). RT-PCR confirmed expression in lenses. While unlikely to be a pathogenic mutation, it remains unknown whether or not this mutation contributes to the phenotype. |
| molecularNote | A spontaneous G to T transversion results in the amino acid substitution of arginine to leucine at position 380 (p.R380L). Enzymatic assay confirmed reduced Cpox activity in the liver. This allele is hypomorphic. |
