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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Pemttm1J
targeted mutation 1, Jackson
MGI:1857394
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Pemttm1J/Pemttm1J involves: 129P2/OlaHsd * C57BL/6 MGI:3043694
cx2
Pemttm1J/Pemttm1J
tnyw/tnyw
B6;129P2 Pemttm1J-tnyw/GrsrJ MGI:3723603
cx3
Abcb4tm1Bor/Abcb4tm1Bor
Pemttm1J/Pemttm1J
involves: 129P2/OlaHsd * C57BL/6 * FVB/N MGI:5618424


Genotype
MGI:3043694
hm1
Allelic
Composition
Pemttm1J/Pemttm1J
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pemttm1J mutation (2 available); any Pemt mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• plasma homocysteine levels about 50% of control levels
• 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
• low in females regardless of diet, reduction less pronounced in males
• HDL fraction with reduced cholesterol and choline derived phospholipids

liver/biliary system
• 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)
• vacuolization seen in about 50% of male hepatocytes
• pale color suggestive of a fatty liver in males when fed high fat and cholesterol
• 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
Pemttm1J/Pemttm1J
tnyw/tnyw
Genetic
Background
B6;129P2 Pemttm1J-tnyw/GrsrJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pemttm1J mutation (2 available); any Pemt mutation (10 available)
tnyw mutation (1 available); any tnyw mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Small size of Pemttm1J/Pemttm1J tnyw/tnyw mice (left) with littermate control (right) at 2 weeks of age

mortality/aging
• most tiny wasting homozygotes die by 3 weeks of age

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

growth/size/body
• 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
• some tiny wasting homozygotes are unable to right themselves
• some tiny wasting homozygotes display abnormal locomotion

hearing/vestibular/ear
N
• ABR assessment on 2 tiny wasting homozygotes failed to detect any abnormality

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




Genotype
MGI:5618424
cx3
Allelic
Composition
Abcb4tm1Bor/Abcb4tm1Bor
Pemttm1J/Pemttm1J
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6 * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abcb4tm1Bor mutation (1 available); any Abcb4 mutation (39 available)
Pemttm1J mutation (2 available); any Pemt mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
liver/biliary system
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
• bile acid disposal on feces is increased compared to single Abcb4 homozygotes
• 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
• plasma alanine transaminase activity is about 70% lower than in single Abcb4 homozygotes
• 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





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
06/23/2022
MGI 6.20
The Jackson Laboratory