Phenotypes associated with this allele

• Allele Symbol: Bpnt1^tm1Yrk
• Allele Name: targeted mutation 1, John D York
• Allele ID: MGI:4818342
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Bpnt1^tm1Yrk/Bpnt1^tm1Yrk	involves: 129S/SvEv * C57BL/6	MGI:5494468
cx2	Bpnt1^tm1Yrk/Bpnt1^tm1Yrk Papss2^bm/Papss2^bm	involves: 129S/SvEv * C57BL/6 * LDJ/Le	MGI:5494469

Genotype
MGI:5494468

hm1

• Allelic Composition: Bpnt1^tm1Yrk/Bpnt1^tm1Yrk
• Genetic Background: involves: 129S/SvEv * C57BL/6

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

cellular

abnormal hepatocyte mitochondrial morphology ( J:194247 )

• small irregular mitochondria

mortality/aging

premature death ( J:194247 )

• mice develop a 45% penetrant lethal full body edema by 45 days of age although normal at birth and through early development

homeostasis/metabolism

abnormal circulating protein level ( J:194247 )

• significantly reduced levels of many serum proteins

abnormal circulating apolipoprotein level ( J:194247 )

• reduced apoa1 synthesis

abnormal circulating apolipoprotein E level ( J:194247 )

• reduced synthesis

abnormal circulating enzyme level ( J:194247 )

increased circulating alanine transaminase level ( J:194247 )

increased circulating alkaline phosphatase level ( J:194247 )

increased circulating aspartate transaminase level ( J:194247 )

decreased circulating serum albumin level ( J:194247 )

• albumin is significantly repressed

• reduced albumin synthesis as determined by radio labelling

anasarca ( J:194247 )

• mice develop a 45% penetrant lethal full body edema by 45 days of age although normal at birth and through early development

decreased cholesterol level ( J:194247 )

• reduced total cholesterol

liver/biliary system

enlarged liver ( J:194247 )

abnormal hepatocyte morphology ( J:194247 )

• hypertrophied nuclei with large abnormal subnuclear structures and less inner membrane bound DNA

• little rough endoplasmic reticulum

• abundant lipid droplets

• 30-50 fold increase in bisphosphorylated nucleotides

• abnormalities evenly distributed throughout liver

abnormal hepatocyte mitochondrial morphology ( J:194247 )

• small irregular mitochondria

pale liver ( J:194247 )

growth/size/body

enlarged liver ( J:194247 )

Genotype
MGI:5494469

cx2

• Allelic Composition: Bpnt1^tm1Yrk/Bpnt1^tm1Yrk; Papss2^bm/Papss2^bm
• Genetic Background: involves: 129S/SvEv * C57BL/6 * LDJ/Le

liver/biliary system

liver/biliary system phenotype ( J:194247 )

N • no hepatotoxicity

N • hepatocytes appear normal

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:194247 )

N • no unusual edema

N • rescued serum chemistry