Phenotypes associated with this allele
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pmm2tm1.1Jins mutation
(1 available);
any
Pmm2 mutation
(24 available)
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mortality/aging
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• embryonic lethality after E12.5, with only 9.75% instead of the expected 25% of mice surviving to term
• providing dams with mannose partially rescues the embryonic lethality
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mortality/aging
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• significant embryonic lethality after 12.5 days post coitum, with only 9.5% instead of the expected 25% surviving to term
• providing dams with mannose does not rescue the embryonic lethality
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cardiovascular system
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• mild myocardial atrophy is seen in 4 week old mice
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• decreased width of individual myofibers
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• decreased thickness of the interventricular septum
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• decreased thickness of both left and right ventricular walls
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craniofacial
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• some mice show failed closure of the posterior fontanelle
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growth/size/body
homeostasis/metabolism
liver/biliary system
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• mice show presence of hepatocellular eosinophilic cytoplasmic hyaline bodies
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muscle
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• mild myocardial atrophy is seen in 4 week old mice
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• decreased width of individual myofibers
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• 6% of mice show hind leg hypotonia
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renal/urinary system
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• rare degenerate cells are present within the tubular epithelium or lumen
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• loss of definition of the brush border of tubular epithelium
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• mild dilation in the proximal tubule is consistently observed in the kidneys and is characterized by increased luminal space and loss of definition of the brush border of tubular epithelium
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skeleton
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• some mice show failed closure of the posterior fontanelle
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• some mice show defective development of the cervical spine near the base of the skull
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• 29% of mice have various degrees of kyphosis
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vision/eye
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• about 10% of mice exhibit various ocular anomalies, including appearance of secreta and inability to open the eye
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hematopoietic system
N |
• mice do not show histological abnormalities in the lungs, spleen, or central nervous system at 4 weeks of age
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nervous system
N |
• mice do not show histological abnormalities in the lungs, spleen, or central nervous system at 4 weeks of age
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respiratory system
N |
• mice do not show histological abnormalities in the lungs, spleen, or central nervous system at 4 weeks of age
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