Phenotypes Associated with This Genotype

Genotype
MGI:3793277

• Allelic Composition: Atp7b^tx/Atp7b^tx
• Genetic Background: DL-Atp7b^tx

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

cellular

maternal effect ( J:66749 )

• 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

mortality/aging

postnatal lethality, complete penetrance ( J:7102 )

• 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

reduced female fertility ( J:7102 )

♀ • older female mice exhibit decreased fertility compared to wild-type mice

homeostasis/metabolism

abnormal copper level ( J:19226 )

• mice exhibit an increase copper accumulation in the kidney, spleen, brain, muscle, serum and red blood cells

decreased circulating copper level ( J:7102 )

increased circulating copper level ( J:19226 )

increased brain copper level ( J:19226 )

increased kidney copper level ( J:19226 )

decreased liver copper level ( J:7102 )

• in postnatal mice

increased liver copper level ( J:7102 , J:19226 , J:40104 )

• in adult mice (J:7102)

increased zinc level ( J:19226 )

• mice exhibit an increased concentration of zinc in the brain, liver and muscle

increased brain zinc level ( J:19226 )

liver/biliary system

decreased liver copper level ( J:7102 )

• in postnatal mice

increased liver copper level ( J:7102 , J:19226 , J:40104 )

• in adult mice (J:7102)

abnormal hepatocyte morphology ( J:19226 )

liver cirrhosis ( J:40104 )

behavior/neurological

tremors ( J:7102 )

• 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

ataxia ( J:7102 )

• 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

decreased body weight ( J:7102 )

• 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

postnatal growth retardation ( J:7102 )

• 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

abnormal muscle physiology ( J:7102 )

• 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

diluted coat color ( J:7102 )

• 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)

hypopigmentation ( J:7102 )

• 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

endocrine/exocrine glands

endocrine/exocrine gland phenotype ( J:66749 )

N • mammary glands are structurally normal by histology

integument

diluted coat color ( J:7102 )

• 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)

disheveled coat ( J:7102 )

• 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

curly vibrissae ( J:7102 )

• 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

increased brain copper level ( J:19226 )

increased brain zinc level ( J:19226 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Wilson disease		DOID:893	OMIM:277900	J:35781