Phenotypes associated with this allele

• Allele Symbol: Atp7b^em1Why
• Allele Name: endonuclease-mediated mutation 1, Haoyi Wang
• Allele ID: MGI:8283441
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Atp7b^em1Why/Atp7b^em1Why	C57BL/6J-Atp7b^em1Why	MGI:8283447

Genotype
MGI:8283447

hm1

• Allelic Composition: Atp7b^em1Why/Atp7b^em1Why
• Genetic Background: C57BL/6J-Atp7b^em1Why

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

behavior/neurological

impaired spatial learning ( J:357757 )

• increased latency to escape in Barnes maze test from age 3 months

increased thigmotaxis ( J:357757 )

• in open field test from age 3 months

decreased vertical activity ( J:357757 )

• decreased number of climbs in open field test from age 3 months

decreased locomotor activity ( J:357757 )

• shorter distance traveled in open field test from age 3 months

cellular

abnormal microglial cell morphology ( J:357757 )

• larger somas, shorter processes and reduced branch points in striatum and cortex at ages 3 and 5 months

increased microglial cell activation ( J:357757 )

• increased number of IBA1<+> microglia in striatum and cortex at ages 3 and 5 months

hematopoietic system

abnormal microglial cell morphology ( J:357757 )

• larger somas, shorter processes and reduced branch points in striatum and cortex at ages 3 and 5 months

increased microglial cell activation ( J:357757 )

• increased number of IBA1<+> microglia in striatum and cortex at ages 3 and 5 months

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:357757 )

• normal iron levels in liver and brain tissues

• normal Cu<2+> levels in striatum, hippocampus, cortex, cerebellum, and brainstem

increased circulating hyaluronic acid level ( J:357757 )

• at ages 3 and 5 months

increased circulating copper level ( J:357757 )

• 8x higher serum Cu<2+> levels

increased circulating protein level ( J:357757 )

• increased serum collagen IV, hepcidin III and laminin levels at ages 3 and 5 months

increased circulating interleukin-1 beta level ( J:357757 )

• at ages 3 and 5 months

increased circulating interleukin-18 level ( J:357757 )

• in striatum and cortex at ages 3 and 5 months

increased circulating interleukin-6 level ( J:357757 )

• at ages 3 and 5 months

increased circulating tumor necrosis factor level ( J:357757 )

• at ages 3 and 5 months

increased circulating alanine transaminase level ( J:357757 )

• at ages 3 and 5 months

increased circulating aspartate transaminase level ( J:357757 )

• at ages 3 and 5 months

edema ( J:357757 )

• in liver at age 3 months

increased copper level ( J:357757 )

• increased urinary Cu<2+> levels

• normal fecal Cu<2+> levels

increased liver copper level ( J:357757 )

• at ages 3 and 5 months

abnormal tumor necrosis factor level ( J:357757 )

• higher TNF levels in striatum, hippocampus and cortex from age 3 months

immune system

abnormal microglial cell morphology ( J:357757 )

• larger somas, shorter processes and reduced branch points in striatum and cortex at ages 3 and 5 months

increased microglial cell activation ( J:357757 )

• increased number of IBA1<+> microglia in striatum and cortex at ages 3 and 5 months

increased circulating interleukin-1 beta level ( J:357757 )

• at ages 3 and 5 months

increased circulating interleukin-18 level ( J:357757 )

• in striatum and cortex at ages 3 and 5 months

increased circulating interleukin-6 level ( J:357757 )

• at ages 3 and 5 months

abnormal tumor necrosis factor level ( J:357757 )

• higher TNF levels in striatum, hippocampus and cortex from age 3 months

increased circulating tumor necrosis factor level ( J:357757 )

• at ages 3 and 5 months

liver inflammation ( J:357757 )

• inflammatory cell infiltration of liver lobules and interstitium ate age 5 months

liver/biliary system

increased liver copper level ( J:357757 )

• at ages 3 and 5 months

liver inflammation ( J:357757 )

• inflammatory cell infiltration of liver lobules and interstitium ate age 5 months

hepatic megalocytosis ( J:357757 )

• cytoplasmic loosening at age 3 months, swelling at age 5 months

liver degeneration ( J:357757 )

• around central vein at age 3 months and generally at age 5 months

liver fibrosis ( J:357757 )

• focal and multifocal periportal fibrosis at age 3 months and diffuse bridging fibrosis at age 5 months

nervous system

abnormal microglial cell morphology ( J:357757 )

• larger somas, shorter processes and reduced branch points in striatum and cortex at ages 3 and 5 months

increased microglial cell activation ( J:357757 )

• increased number of IBA1<+> microglia in striatum and cortex at ages 3 and 5 months

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Wilson disease		DOID:893	OMIM:277900	J:357757