Phenotypes associated with this allele

• Allele Symbol: Slc7a11^tm1Hsat
• Allele Name: targeted mutation 1, Hideyo Sato
• Allele ID: MGI:3608695
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc7a11^tm1Hsat/Slc7a11^tm1Hsat	involves: 129P2/OlaHsd * C57BL/6	MGI:3608978

Genotype
MGI:3608978

hm1

• Allelic Composition: Slc7a11^tm1Hsat/Slc7a11^tm1Hsat
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

homeostasis/metabolism

abnormal circulating amino acid level ( J:102902 )

• plasma GSH levels are reduced to about 1/2 wild-type and total non-protein-bound disulfide forms of GSH are increased; however GSH content of the liver, kidney, cerebrum, cerebellum, thymus, and spleen are all similar to wild-type

increased circulating cysteine level ( J:102902 )

• plasma levels of cystine are increased about 2-fold whereas plasma cysteine concentration is similar to that in controls

• plasma concentration of the total non-protein-bound disulfide forms of cysteine is much higher than in controls

cellular

abnormal cell death ( J:102902 )

• homozygous embryonic fibroblasts die in culture unless supplemented with 50uM 2-mercaptoethanol, more than 1mM N-acetyl cysteine, or vitamin E (protects from death but does not support proliferation)

decreased fibroblast proliferation ( J:102902 )

• homozygous embryonic fibroblasts fail to proliferate in culture unless supplemented with 50uM 2-mercaptoethanol or more than 1mM N-acetyl cysteine