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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Slc31a1tm2Djt
targeted mutation 2, Dennis J Thiele
MGI:3771147
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
cn1
Slc31a1tm2Djt/Slc31a1tm2Djt
Tg(Vil1-cre)997Gum/0
involves: 129 * C57BL/6 * FVB/N * SJL MGI:3771153


Genotype
MGI:3771153
cn1
Allelic
Composition
Slc31a1tm2Djt/Slc31a1tm2Djt
Tg(Vil1-cre)997Gum/0
Genetic
Background
involves: 129 * C57BL/6 * FVB/N * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc31a1tm2Djt mutation (1 available); any Slc31a1 mutation (40 available)
Tg(Vil1-cre)997Gum mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• most mice die by P14 with severe weight loss and nearly all mice die by weaning
• however, postnatal lethality can be rescued by intraperitoneal injection of copper

homeostasis/metabolism
• copper levels are reduced in the heart, brain, kidney and spleen to 18%, 20%, less than 40% and 70%, respectively, of wild-type levels
• copper levels are over 8-fold higher in intestinal epithelial cells compared to wild-type
• serum copper levels are less than 40% of wild-type
• copper content in the liver reduced to 5% of wild-type
• iron content in the liver is increased 4-fold compared to in wild-type mice

cardiovascular system
• cardiac tissue exhibits large vacuoles and swollen mitochondria not present in wild-type cardiac tissue
• however, abnormal cardiac tissue morphology can be partially rescued by intraperitoneal injection of copper
• hearts are enlarged 20% compared to wild-type
• cardiac hypertrophy occurs at 2 weeks of age

growth/size/body
• hearts are enlarged 20% compared to wild-type
• cardiac hypertrophy occurs at 2 weeks of age
• at P14, mice weigh 4 g instead 9 g for wild-type mice
• mice die with severe weight loss
• however, postnatal weight lose can be rescued by intraperitoneal injection of copper
• mice exhibit poor growth beginning at day 10

behavior/neurological

hematopoietic system
• spleen weight adjusted for decreased body weight is less than in wild-type mice

pigmentation

liver/biliary system
• copper content in the liver reduced to 5% of wild-type

immune system
• spleen weight adjusted for decreased body weight is less than in wild-type mice

integument
• whiskers are kinked and brittle
• skin laxity





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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory