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Phenotypes Associated with This Genotype
Genotype
MGI:6393655
Allelic
Composition
Atp7atm1.2Mlke/Y
Genetic
Background
involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp7atm1.2Mlke mutation (0 available); any Atp7a mutation (69 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle
• tibialis anterior muscle show disorganization of muscle fibers
• tibialis anterior muscles show increased diameter of fibers at 24 months of age
• however, no changes in the proportion of centralized nuclei are seen

homeostasis/metabolism
• brain and spinal cord copper concentrations are increased from 6 months of age
• however, no differences are seen in calf muscle, kidney, or liver copper levels
• MEFs show a higher cellular copper accumulation after copper loading than control MEFs and after restoration to a cooper-free culture media, MEFs are less efficient at reducing the intracellular copper concentration than controls
• from 6 months of age

cellular
• MEFs are more sensitive to copper-induced toxicity

behavior/neurological
N
• males show no physical manifestations of peripheral neuropathy in limb clasping or rotarod performance

nervous system
N
• males show no sciatic nerve axonal degeneration at 18 months of age and no differences in neuromuscular junction occupancy are seen at 24 months of age
• from 6 months of age

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
X-linked distal spinal muscular atrophy 3 DOID:0111196 OMIM:300489
J:266704


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory