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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Pitpnatm1Vab
targeted mutation 1, Vytas A Bankaitis
MGI:2676298
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Pitpnatm1Vab/Pitpnatm1Vab involves: 129S7/SvEvBrd MGI:2676370


Genotype
MGI:2676370
hm1
Allelic
Composition
Pitpnatm1Vab/Pitpnatm1Vab
Genetic
Background
involves: 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pitpnatm1Vab mutation (0 available); any Pitpna mutation (51 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 40% died within 48 hours of birth (J:85204)
• neonatal death putatively a result of the cessation of nutrients provided by maternal circulation (J:85204)
• 40% died within 48 hours of birth (J:85204)
• neonatal death putatively a result of the cessation of nutrients provided by maternal circulation (J:85204)
• all but 1 mouse died by 11 days of age (J:85204)
• early postnatal death putatively a result of the cessation of nutrients provided by maternal circulation (J:85204)
• all but 1 mouse died by 11 days of age (J:85204)
• early postnatal death putatively a result of the cessation of nutrients provided by maternal circulation (J:85204)

adipose tissue
• absence of axillary fat pads (J:85204)
• absence of axillary fat pads (J:85204)
• absence of inguinal fat pads (J:85204)
• absence of inguinal fat pads (J:85204)

behavior/neurological
• coarse action tremors upon limb extension (J:85204)
• coarse action tremors upon limb extension (J:85204)
• by 4 days of age all mice were severely ataxic and unable to maintain themselves upright (J:85204)
• by 4 days of age all mice were severely ataxic and unable to maintain themselves upright (J:85204)
• approximately 10% of mice exhibited spontaneous seizures (J:85204)
• approximately 10% of mice exhibited spontaneous seizures (J:85204)

cellular
• increased apoptosis in the cerebellum, particularly in the external granule layer (J:85204)
• increased apoptosis in the cerebellum, particularly in the external granule layer (J:85204)

digestive/alimentary system
• intestinal microvesicular steatosis similar to that observed in human chylomicron retention disease (J:85204)
• intestinal microvesicular steatosis similar to that observed in human chylomicron retention disease (J:85204)
• intestinal cells were larger than those of wild-type due to an accumulation of diet-derived lipids (J:85204)
• intestinal cells were larger than those of wild-type due to an accumulation of diet-derived lipids (J:85204)

endocrine/exocrine glands
• aberrant morphology of observed islets (J:85204)
• aberrant morphology of observed islets (J:85204)
• greater than 2-fold decrease in the absolute islet number relative to controls (J:85204)
• greater than 2-fold decrease in the absolute islet number relative to controls (J:85204)

growth/size/body
• by 10 days of age, surviving mice were 2.5 fold less massive than wild-type and heterozygous littermates (J:85204)
• by 10 days of age, surviving mice were 2.5 fold less massive than wild-type and heterozygous littermates (J:85204)

homeostasis/metabolism
• modest elevations consistent with the amount of hepatic stress (J:85204)
• modest elevations consistent with the amount of hepatic stress (J:85204)
• 9-fold reduction in serum glucose levels relative to controls, accompanied by increased levels of gluconeogenic compounds (J:85204)
• 9-fold reduction in serum glucose levels relative to controls, accompanied by increased levels of gluconeogenic compounds (J:85204)
• 9-fold reduction in serum insulin levels relative to controls (J:85204)
• 9-fold reduction in serum insulin levels relative to controls (J:85204)
• modest elevations consistent with the amount of hepatic stress (J:85204)
• modest elevations consistent with the amount of hepatic stress (J:85204)
• kinetic defects in the rate of glycogenolysis (J:85204)
• kinetic defects in the rate of glycogenolysis (J:85204)

liver/biliary system
• aponecrosis of hepatocytes (J:85204)
• aponecrosis of hepatocytes (J:85204)
• intracellular accumulation of neutral lipid and free fatty acid mass, resulting in microvesicular steatosis (J:85204)
• intracellular accumulation of neutral lipid and free fatty acid mass, resulting in microvesicular steatosis (J:85204)

nervous system
• approximately 10% of mice exhibited spontaneous seizures (J:85204)
• approximately 10% of mice exhibited spontaneous seizures (J:85204)
• degeneration indicated by reactive gliosis (J:85204)
• degeneration indicated by reactive gliosis (J:85204)
• infiltration by inflammatory cells in the dorsal spinal column (J:85204)
• infiltration by inflammatory cells in the dorsal spinal column (J:85204)
• aponecrosis of motor neuron cell bodies in the ventral horn (J:85204)
• aponecrosis of motor neuron cell bodies in the ventral horn (J:85204)
• white matter was thin and sparse in regions of the cervical, lumbar, and thoracic spinal cord (J:85204)
• white matter was thin and sparse in regions of the cervical, lumbar, and thoracic spinal cord (J:85204)
• aponecrotic spinocerebellar disease characterized by reactive gliosis of the cerebellum and brainstem (J:85204)
• also affecting the white and gray matter of the spinal cord (J:85204)
• aponecrotic spinocerebellar disease characterized by reactive gliosis of the cerebellum and brainstem (J:85204)
• also affecting the white and gray matter of the spinal cord (J:85204)
• observed in both white and gray matter, particularly in the dorsal spinal column (J:85204)
• observed in both white and gray matter, particularly in the dorsal spinal column (J:85204)

Mouse Models of Human Disease
OMIM ID Ref(s)
Chylomicron Retention Disease; CMRD 246700 J:85204





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last database update
01/26/2016
MGI 6.02
The Jackson Laboratory