Phenotypes associated with this allele

• Allele Symbol: Pemt^tm1J
• Allele Name: targeted mutation 1, Jackson
• Allele ID: MGI:1857394
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pemt^tm1J/Pemt^tm1J	involves: 129P2/OlaHsd * C57BL/6	MGI:3043694
cx2	Pemt^tm1J/Pemt^tm1J tnyw/tnyw	B6;129P2 Pemt^tm1J-tnyw/GrsrJ	MGI:3723603
cx3	Abcb4^tm1Bor/Abcb4^tm1Bor Pemt^tm1J/Pemt^tm1J	involves: 129P2/OlaHsd * C57BL/6 * FVB/N	MGI:5618424

Genotype
MGI:3043694

hm1

• Allelic Composition: Pemt^tm1J/Pemt^tm1J
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

homeostasis/metabolism

decreased circulating homocysteine level ( J:81995 )

• plasma homocysteine levels about 50% of control levels

abnormal lipid level ( J:83870 )

• reduced levels of plasma phosphatidyl choline and lysophosphatidyl choline in both males and females when fet high fat high cholesterol diets

• plasma triacylglycerol significantly reduced in males on a high fat high cholesterol diet

abnormal circulating cholesterol level ( J:83870 )

decreased circulating cholesterol level ( J:83870 )

• low in females regardless of diet, reduction less pronounced in males

decreased circulating HDL cholesterol level ( J:83870 )

• HDL fraction with reduced cholesterol and choline derived phospholipids

liver/biliary system

abnormal liver morphology ( J:73735 , J:83870 )

• liver damage develops when fed a choline deficient diet (J:73735)

• a non significant drop in liver weight was seen on a high fat high cholesterol diet in males (J:83870)

• granular appearance in males (J:83870)

abnormal hepatocyte morphology ( J:83870 )

• vacuolization seen in about 50% of male hepatocytes

hepatic steatosis ( J:83870 )

• pale color suggestive of a fatty liver in males when fed high fat and cholesterol

abnormal liver physiology ( J:81995 , J:83870 )

• secretion of homocysteine is reduced about 50% (J:81995)

• triacylglycerol levels in the liver of males are increased 4 fold on a high fat, high cholesterol diet (J:83870)

• cholesteryl ester levels in the liver of males are increased on a high fat, high cholesterol diet (J:83870)

Genotype
MGI:3723603

cx2

• Allelic Composition: Pemt^tm1J/Pemt^tm1J; tnyw/tnyw
• Genetic Background: B6;129P2 Pemt^tm1J-tnyw/GrsrJ

Small size of Pemt^tm1J/Pemt^tm1J tnyw/tnyw mice (left) with littermate control (right) at 2 weeks of age

mortality/aging

premature death ( J:125079 )

postnatal lethality, incomplete penetrance ( J:125079 )

• most tiny wasting homozygotes die by 3 weeks of age

nervous system

brain vacuoles ( J:125079 )

• tiny wasting homozygotes assessed at 16 days of age to 3.5 weeks of age display vacuoles in the brain

growth/size/body

decreased body size ( J:125079 )

• all tiny wasting homozygotes are smaller than heterozygous controls and can be identified by 2 weeks of age by their smaller wasting bodies

behavior/neurological

impaired righting response ( J:125079 )

• some tiny wasting homozygotes are unable to right themselves

abnormal locomotor coordination ( J:125079 )

• some tiny wasting homozygotes display abnormal locomotion

impaired limb coordination ( J:125079 )

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:125079 )

N • ABR assessment on 2 tiny wasting homozygotes failed to detect any abnormality

endocrine/exocrine glands

endocrine/exocrine gland phenotype ( J:125079 )

N • histology of pituitary glands, thyroid glands, and somatic organs reveals no abnormalities

Genotype
MGI:5618424

cx3

• Allelic Composition: Abcb4^tm1Bor/Abcb4^tm1Bor; Pemt^tm1J/Pemt^tm1J
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

liver/biliary system

liver/biliary system phenotype ( J:175015 )

N • the liver damage that is seen in single Abcb4 homozygotes is attenuated with livers showing fewer hepatocytes with irregular nuclear polymorphism, less focal necrosis with formation of eosinophilic bodies, less portal inflammation, and less cholangitis

digestive/alimentary system

abnormal feces composition ( J:175015 )

• bile acid disposal on feces is increased compared to single Abcb4 homozygotes

abnormal intestine physiology ( J:175015 )

• bile acid uptake in the ileum is decreased compared to single Abcb4 homozygotes and this impaired re-absorption of bile acids is due to lower concentration of sodium in the ileal segment of the small intestine

homeostasis/metabolism

decreased circulating alanine transaminase level ( J:175015 )

• plasma alanine transaminase activity is about 70% lower than in single Abcb4 homozygotes

decreased bile salt level ( J:175015 )

• concentration of bile acids in the plasma is about 50% lower than in single Abcb4 homozygotes

• bile acid content in livers is lower than in single Abcb4 homozygotes

• pool size of bile acids is reduced compared to single Abcb4 homozygotes