Phenotypes associated with this allele

• Allele Symbol: Gstz1^tm1Pgb
• Allele Name: targeted mutation 1, Philip G Board
• Allele ID: MGI:3050206
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gstz1^tm1Pgb/Gstz1^tm1Pgb	BALB/c-Gstz1^tm1Pgb/AnuApb	MGI:3050551

Genotype
MGI:3050551

hm1

• Allelic Composition: Gstz1^tm1Pgb/Gstz1^tm1Pgb
• Genetic Background: BALB/c-Gstz1^tm1Pgb/AnuApb

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

mortality/aging

increased susceptibility to induced morbidity/mortality ( J:91519 )

• 3% phenylalanine in the water is lethal to young homozygotes, less than 28 days old, but not to older homozygotes, greater than 66 days old

premature death ( J:91519 )

• several mutants died after 1 year of age from heart pathologies

cardiovascular system

dystrophic cardiac calcinosis ( J:91519 )

• in some mutants over 1 year of age calcification of the myocardium in the right atrium and/or ventricle is seen

• calcification is also seen in 3 of 8 young mutants that died after 3% phenylalanine exposure

cellular

abnormal hepatocyte mitochondrial morphology ( J:91519 )

• large pleomorphic mitochondria are seen in hepatocytes from mutants

cellular necrosis ( J:91519 )

• in some mutants over 1 year of age myocyte necrosis is seen

• myocyte necrosis is also seen in 2 of 8 young mutants that died after 3% phenylalanine exposure

growth/size/body

decreased body weight ( J:91519 )

• male homozygotes weigh slightly less than wild-type or heterozygous males

weight loss ( J:91519 )

• 3% phenylalanine in the water results in greater weight loss and growth restriction in male homozygotes compared to wild-type mice

increased kidney weight ( J:91519 )

• kidney weight is greater in homozygotes compared to wild-type mice

• 3% phenylalanine in the water results in an increase in kidney weight in homozygotes but not in wild-type mice

increased liver weight ( J:91519 )

• on a normal diet liver weight is greater in homozygotes compared to wild-type mice

hematopoietic system

decreased leukocyte cell number ( J:91519 )

• 3% phenylalanine in the water results in decreased total white cell counts in mutants but not in wild-type mice

decreased spleen weight ( J:91519 )

• spleen weight is significantly decreased in female homozygotes and tends to be decreased in male homozygotes compared to wild-type mice

• 3% phenylalanine in the water results in a dramatic decrease in spleen weight in homozygotes with reduction in both white and red pulp, but an increase in spleen weight in wild-type mice

immune system

decreased leukocyte cell number ( J:91519 )

• 3% phenylalanine in the water results in decreased total white cell counts in mutants but not in wild-type mice

decreased spleen weight ( J:91519 )

• spleen weight is significantly decreased in female homozygotes and tends to be decreased in male homozygotes compared to wild-type mice

• 3% phenylalanine in the water results in a dramatic decrease in spleen weight in homozygotes with reduction in both white and red pulp, but an increase in spleen weight in wild-type mice

chronic inflammation ( J:91519 )

• in some mutants over 1 year of age chronic inflammation is seen in the heart

liver inflammation ( J:91519 )

• at 6 weeks and 6 months of age multifocal hepatitis is seen

liver/biliary system

abnormal hepatocyte mitochondrial morphology ( J:91519 )

• large pleomorphic mitochondria are seen in hepatocytes from mutants

increased liver weight ( J:91519 )

• on a normal diet liver weight is greater in homozygotes compared to wild-type mice

liver inflammation ( J:91519 )

• at 6 weeks and 6 months of age multifocal hepatitis is seen

hepatic necrosis ( J:91519 )

• at 6 months of age 3 of 7 homozygotes show hepatocyte necrosis

• 3 out of 8 homozygotes that died after 3% phenylalanine exposure displayed hepatocyte necrosis

macrovesicular hepatic steatosis ( J:91519 )

• 5 out of 8 homozygotes that died after 3% phenylalanine exposure displayed macrovesicular steatosis

renal/urinary system

increased kidney weight ( J:91519 )

• kidney weight is greater in homozygotes compared to wild-type mice

• 3% phenylalanine in the water results in an increase in kidney weight in homozygotes but not in wild-type mice