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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
targeted mutation 1, Vytas A Bankaitis
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
Pitpnatm1Vab/Pitpnatm1Vab involves: 129S7/SvEvBrd MGI:2676370

involves: 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pitpnatm1Vab mutation (0 available); any Pitpna mutation (56 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
• 40% died within 48 hours of birth
• neonatal death putatively a result of the cessation of nutrients provided by maternal circulation
• all but 1 mouse died by 11 days of age
• early postnatal death putatively a result of the cessation of nutrients provided by maternal circulation

adipose tissue
• absence of axillary fat pads
• absence of inguinal fat pads

• coarse action tremors upon limb extension
• by 4 days of age all mice were severely ataxic and unable to maintain themselves upright
• approximately 10% of mice exhibited spontaneous seizures

• increased apoptosis in the cerebellum, particularly in the external granule layer

digestive/alimentary system
• intestinal microvesicular steatosis similar to that observed in human chylomicron retention disease
• intestinal cells were larger than those of wild-type due to an accumulation of diet-derived lipids

endocrine/exocrine glands
• aberrant morphology of observed islets
• greater than 2-fold decrease in the absolute islet number relative to controls

• by 10 days of age, surviving mice were 2.5 fold less massive than wild-type and heterozygous littermates

• modest elevations consistent with the amount of hepatic stress
• 9-fold reduction in serum glucose levels relative to controls, accompanied by increased levels of gluconeogenic compounds
• 9-fold reduction in serum insulin levels relative to controls
• modest elevations consistent with the amount of hepatic stress
• kinetic defects in the rate of glycogenolysis

liver/biliary system
• aponecrosis of hepatocytes
• intracellular accumulation of neutral lipid and free fatty acid mass, resulting in microvesicular steatosis

nervous system
• approximately 10% of mice exhibited spontaneous seizures
• degeneration indicated by reactive gliosis
• infiltration by inflammatory cells in the dorsal spinal column
• aponecrosis of motor neuron cell bodies in the ventral horn
• white matter was thin and sparse in regions of the cervical, lumbar, and thoracic spinal cord
• aponecrotic spinocerebellar disease characterized by reactive gliosis of the cerebellum and brainstem
• also affecting the white and gray matter of the spinal cord
• observed in both white and gray matter, particularly in the dorsal spinal column

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
chylomicron retention disease DOID:0060357 OMIM:246700

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.11
The Jackson Laboratory