| Primary Identifier | MGI:1856100 | Allele Type | Spontaneous |
| Gene | Atp7a | Inheritance Mode | Semidominant |
| Strain of Origin | Outbred | Is Recombinase | false |
| Is Wild Type | false |
| molecularNote | While a direct complementation test was not done for this allele due to male lethality, mice carrying this mutation are genetically and phenotypically similar to other mottled alleles. The phenotype includes a defect in copper transport, consistent with a mutation in the Atp7a gene. The cDNA of this gene was sequenced and a CAG insertion was found at the end of the 4th exon in mutant but not in control mice. The same CAG insertion was previously described as a polymorphism in alternative splicing between BALB/c and C57BL/6 mice, therefore the changed sequence in this Atp7a allele may be strongly related to the phenotype but not the cause of the mutation. |
