Mouse Genome Informatics
hm
    Atp7btx/Atp7btx
DL-Atp7btx
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• mice die at about 14 days of age
• severity of defects depends on genetic background (less severe on a mixes C57BL/6 background) and maternal age (decreasing severity with increasing maternal age)
• however, fostering with wild-type dams reverses many defects depending on the age of onset of fostering

reproductive system
• older female mice exhibit decreased fertility compared to wild-type mice (J:7102)

homeostasis/metabolism
• mice exhibit an increase in zinc the brain, liver and muscle
• mice exhibit an increase copper accumulation in the kidney, spleen, brain, muscle, serum and red blood cells
• in postnatal mice
• in adult mice (J:7102)

liver/biliary system
• in postnatal mice
• in adult mice (J:7102)

behavior/neurological
• mice exhibit tremors
• severity of defects depends on genetic background (less severe on a mixes C57BL/6 background) and maternal age (decreasing severity with increasing maternal age)
• however, fostering with wild-type dams reverses many defects depending on the age of onset of fostering
• mice exhibit difficulty walking, listing from side to side, overbalancing, falling over and exerting great effort in righting themselves
• severity of defects depends on genetic background (less severe on a mixes C57BL/6 background) and maternal age (decreasing severity with increasing maternal age)
• however, fostering with wild-type dams reverses many defects depending on the age of onset of fostering

growth/size/body
• mice reach their maximal weight at day 9 (70% of wild-type) and exhibit weight loss until their death
• severity of defects depends on genetic background (less severe on a mixes C57BL/6 background) and maternal age (decreasing severity with increasing maternal age)
• however, fostering with wild-type dams reverses many defects depending on the age of onset of fostering
• apparent within a day or two after birth
• severity of defects depends on genetic background (less severe on a mixes C57BL/6 background) and maternal age (decreasing severity with increasing maternal age)
• however, fostering with wild-type dams reverses many defects depending on the age of onset of fostering

muscle
• mice exhibit hyperextension of hindlimbs and hyperflexion of wrists
• severity of defects depends on genetic background (less severe on a mixes C57BL/6 background) and maternal age (decreasing severity with increasing maternal age)
• however, fostering with wild-type dams reverses many defects depending on the age of onset of fostering

pigmentation
• mice exhibit pale coat color
• severity of defects depends on genetic background (less severe on a mixes C57BL/6 background) and maternal age (decreasing severity with increasing maternal age)
• pigment contained within melanocytes is lighter than normal
• severity of defects depends on genetic background (less severe on a mixes C57BL/6 background) and maternal age (decreasing severity with increasing maternal age)
• however, fostering with wild-type dams reverses many defects depending on the age of onset of fostering

other phenotype
• pups suckled by homozygous mothers are deficient in copper concentration in their stomach contents and liver, and supplementing the drinking water of the homozygous mother with copper does not increase the copper content of the milk but rather increases the copper accumulation in the mammary gland

endocrine/exocrine glands
N
• mammary glands are structurally normal by histology (J:66749)

integument
• mice exhibit pale coat color
• severity of defects depends on genetic background (less severe on a mixes C57BL/6 background) and maternal age (decreasing severity with increasing maternal age)
• especially as mice approaches the end of its life expectancy at 2 weeks of age
• severity of defects depends on genetic background (less severe on a mixes C57BL/6 background) and maternal age (decreasing severity with increasing maternal age)
• however, fostering with wild-type dams reverses many defects depending on the age of onset of fostering
• mice exhibit curly whiskers
• severity of defects depends on genetic background (less severe on a mixes C57BL/6 background) and maternal age (decreasing severity with increasing maternal age)
• however, fostering with wild-type dams reverses many defects depending on the age of onset of fostering

nervous system

Mouse Models of Human Disease
OMIM IDRef(s)
Wilson Disease 277900 J:35781