Phenotypes associated with this allele

• Allele Symbol: Slc31a2^tm1.1Djt
• Allele Name: targeted mutation 1.1, Dennis J Thiele
• Allele ID: MGI:7858957
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc31a2^tm1.1Djt/Slc31a2^tm1.1Djt	involves: FVB/N	MGI:7858958

Genotype
MGI:7858958

hm1

• Allelic Composition: Slc31a2^tm1.1Djt/Slc31a2^tm1.1Djt
• Genetic Background: involves: FVB/N

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

homeostasis/metabolism

increased copper level ( J:202898 )

• increased in the brain, kidney, spleen, muscle and testes at 5 and 7 months of age

• however, no accumulation is seen in the liver and no Zn or Fe accumulation is seen

• copper accumulates in the endosomal compartment in immortalized MEFs

increased brain copper level ( J:202898 )

• increase in the brain is exacerbated at 20-22 months of age

• at 5 months of age copper accumulates in intracellular deposits outside of the nucleus

increased kidney copper level ( J:202898 )

renal/urinary system

increased kidney copper level ( J:202898 )

nervous system

increased brain copper level ( J:202898 )

• increase in the brain is exacerbated at 20-22 months of age

• at 5 months of age copper accumulates in intracellular deposits outside of the nucleus