Homozygotes have tonic-clonic seizures by eight-to-ten weeks of age. Both male and female homozygotes breed and have a normal life span.
The Ap3b2m2J mutation arose spontaneously in the B6;129S6-Epha2tm1Jrui/J strain at The Jackson Laboratory in 2007. To eliminate the Epha2tm1Jrui from this mutant subline a mutant was outcrossed to C57BL/6J and the double heterozygous offspring were selectively intercrossed for several generations, removing Epha2tm1Jrui and retaining Ap3b2m2J. In 2011 sperm was cryopreserved from homozygous males at generation N1F6.
|Allele Name||mutation 2 Jackson|
|Allele Type||Spontaneous (Null/Knockout)|
|Gene Symbol and Name||Ap3b2, adaptor-related protein complex 3, beta 2 subunit|
|Strain of Origin||B6;129S6-Epha2tm1Jrui/J|
|Molecular Note||This spontaneous single nucleotide variant of G to A at Chromosome 7 position 88,618,348 (MGSCv37), which is in exon 7, is predicted to result in the nonsense mutation R435* so is predicted to be a null allele.|