Phenotypes Associated with This Genotype

Genotype
MGI:3793274

• Allelic Composition: Atp7b^tx-J/Atp7b^tx-J
• Genetic Background: C3H/HeJ-Atp7b^tx-J/J

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:24233 )

cellular

maternal effect ( J:24233 )

• the first litter is the most severely affected and the severity of the phenotype in pups decreases with each subsequent litter of the dam

liver/biliary system

abnormal liver morphology ( J:86701 , J:130273 )

• the mitochondrial in the liver are abnormal at 3 months of age consisting of changes in the width of cristae with some cystic dilation at the tips (J:130273)

liver cirrhosis ( J:24233 )

• in older homozygotes

homeostasis/metabolism

increased brain copper level ( J:86701 )

• copper levels in the brain are increased 1.2-fold at 4 months and 3-fold at 6 months

nervous system

abnormal brain morphology ( J:24233 )

• mice exhibit neuronal necrosis in the dorsal and lateral aspects of the frontal parietal and occipital lobes but not the temporal lobe

increased brain copper level ( J:86701 )

• copper levels in the brain are increased 1.2-fold at 4 months and 3-fold at 6 months

abnormal cerebral hemisphere morphology ( J:24233 )

• at 1 week of age acute neuronal necrosis, histologically characterized by nuclear pyknosis with cytoplasmic shrinkage and eosinophilia, is found in the dorsal and lateral aspects of the frontal, parietal and occipital lobes, but not the temporal lobe, and the first and second layers of each section of the cortex tend not to be affected while the third to sixth layers are the most affected

abnormal frontal lobe morphology ( J:24233 )

abnormal occipital lobe morphology ( J:24233 )

abnormal parietal lobe morphology ( J:24233 )

neuron degeneration ( J:24233 )

pigmentation

diluted coat color ( J:24233 )

• pale coat color

hematopoietic system

increased eosinophil cell number ( J:24233 )

• in areas of neuronal necrosis

immune system

increased eosinophil cell number ( J:24233 )

• in areas of neuronal necrosis

integument

diluted coat color ( J:24233 )

• pale coat color

curly vibrissae ( J:24233 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Wilson disease		DOID:893	OMIM:277900	J:130273