Phenotypes Associated with This Genotype

Genotype
MGI:6393655

• Allelic Composition: Atp7a^tm1.2Mlke/Y
• Genetic Background: involves: C57BL/6J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

muscle

abnormal skeletal muscle fiber morphology ( J:266704 )

♂ • tibialis anterior muscle show disorganization of muscle fibers

increased skeletal muscle fiber diameter ( J:266704 )

♂ • 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

abnormal copper level ( J:266704 )

♂ • 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

increased brain copper level ( J:266704 )

♂ • from 6 months of age

cellular

abnormal cell physiology ( J:266704 )

♂ • MEFs are more sensitive to copper-induced toxicity

behavior/neurological

behavior/neurological phenotype ( J:266704 )

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

nervous system

nervous system phenotype ( J:266704 )

♂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

increased brain copper level ( J:266704 )

♂ • 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