Female mice heterozygous for the blotchy alleles (Atp7aMo-blo) are viable and fertile. They have irregular patches of light-colored fur. Hemizygous males and homozygous females have reduced viability and many are infertile. Hemizygotes and homozygotes are light all over with no blotching, are usually small, and occasionally have deformed hindlegs. Most hemizygotes and homozygotes have defective elastin in the aorta and usually die with aortic aneurysm. Hemizygous males have enlarged air spaces in the lung (emphysema), probably because of defective elastin and collagen. Skin collagen and aortic elastin have defective crosslinking at the step at which lysine residues are converted to aldehydes. Hemizygous males have a deficiency of noradrenalin in the brain, probably because a deficiency of copper shown to exist in the brain causes defective activity of the enzyme dopamine-beta-hydroxylase. Copper absorption from the gut and hepatic copper concentration are reduced to 64% and 56% of normal, respectively.
|Allele Synonym(s)||ATP7Amut; Blo; Moblo|
|Gene Symbol and Name||Atp7a, ATPase, Cu++ transporting, alpha polypeptide|
|Strain of Origin||Not Specified|
|Molecular Note||The mutation is an A-to-C transversion in postition +3 of the intron 11 splice donor. Trancripts derived from this allele are often misspliced and either skip exon 11 or use a cryptic splice site further downstream from the correct splice site. Some normal transcript is also expressed. Western blot and activity analysis demonstrated that only greatly reduced levels of normal sized, but nonfunctional, protein was made.|
When maintaining a live colony, these mice can be bred as heterozygous females and wildtype males from the colony (the gene is X linked).
Hemizygous males and homozygous females have reduced viability and many are infertile.
When using the blotchy mouse strain in a publication, please cite the originating article(s) and include JAX stock #000535 in your Materials and Methods section.