Phenotypes associated with this allele

• Allele Symbol: Gstz1^tm1Jmfc
• Allele Name: targeted mutation 1, Jose Manuel Fernandez-Canon
• Allele ID: MGI:2183286
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gstz1^tm1Jmfc/Gstz1^tm1Jmfc	129S4/SvJae-Gstz1^tm1Jmfc	MGI:3628439

Genotype
MGI:3628439

hm1

• Allelic Composition: Gstz1^tm1Jmfc/Gstz1^tm1Jmfc
• Genetic Background: 129S4/SvJae-Gstz1^tm1Jmfc

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

mortality/aging

increased susceptibility to induced morbidity/mortality ( J:77040 )

• diet high in phenylalanine or tyrosine leads to rapid weight loss and death

homeostasis/metabolism

ketoaciduria ( J:77040 , J:86595 )

• fumarylacetoacetate and succinylacetone found in the urine (J:77040)

• tyrosine metabolites upstream of maleylacetoacetate are elevated (J:86595)

cellular

increased kidney apoptosis ( J:77040 )

• on diets high in phenylalanine or tyrosine

renal necrosis ( J:77040 )

• on diets high in phenylalanine or tyrosine

oxidative stress ( J:77040 )

• low level induction of Nqo1 mRNA in cells of the liver is a subclinical indication of oxidative stress

liver/biliary system

abnormal liver morphology ( J:77040 )

• calcification develops on diets high in phenylalanine or tyrosine

hepatic steatosis ( J:77040 )

• micro and macrosteatosis develops on diets high in phenylalanine or tyrosine

macrovesicular hepatic steatosis ( J:77040 )

• macrosteatosis develops on diets high in phenylalanine or tyrosine

microvesicular hepatic steatosis ( J:77040 )

• microsteatosis develops on diets high in phenylalanine or tyrosine

renal/urinary system

increased kidney apoptosis ( J:77040 )

• on diets high in phenylalanine or tyrosine

ketoaciduria ( J:77040 , J:86595 )

• fumarylacetoacetate and succinylacetone found in the urine (J:77040)

• tyrosine metabolites upstream of maleylacetoacetate are elevated (J:86595)

abnormal kidney morphology ( J:77040 )

• vacuolization, apoptosis and necrosis when fed diets high in phenylalanine or tyrosine

renal necrosis ( J:77040 )

• on diets high in phenylalanine or tyrosine

abnormal renal tubule epithelium morphology ( J:77040 )

• epithelial hyperplasia on diets high in phenylalanine or tyrosine