Phenotypes associated with this allele
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptpn11tm1Bgn mutation
(1 available);
any
Ptpn11 mutation
(43 available)
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mortality/aging
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• homozygous embryos die around E13.5
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cardiovascular system
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• the myocardium is markedly thinner compared to wild-type
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• enlarged outflow tract and atrioventricular valve primordia are seen
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• at E13.5 atrial septal defects are seen
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• at E13.5 atrioventricular septal defects are seen
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• at E13.5 ventricular and atrioventricular septal defects are seen
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• pericardial effusions are seen
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• at E13.5 embryos are grossly hemorrhagic
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• decreased apoptosis is seen in endocardial cushions
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cellular
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• decreased apoptosis is seen in endocardial cushions
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• at E13.5 severe liver necrosis is seen
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• increased cellular proliferation is seen in endocardial cushions
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homeostasis/metabolism
liver/biliary system
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• at E13.5 severe liver necrosis is seen
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• at E13.5 decreased liver size is seen
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muscle
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• the myocardium is markedly thinner compared to wild-type
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• decreased apoptosis is seen in endocardial cushions
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptpn11tm1Bgn mutation
(1 available);
any
Ptpn11 mutation
(43 available)
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mortality/aging
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N |
• Background Sensitivity: unlike mice on a congenic C57BL/6 background nearly all mice survive
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptpn11tm1Bgn mutation
(1 available);
any
Ptpn11 mutation
(43 available)
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mortality/aging
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• Background Sensitivity: penetrance of lethality is increased compared to mice on a 129S6/SvEv or BALB/c congenic background and to mice on a mixed 129S4/SvJae and C57BL/6 background
• almost all mice die
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cardiovascular system
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• all mice show severe cardiac defects
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptpn11tm1Bgn mutation
(1 available);
any
Ptpn11 mutation
(43 available)
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mortality/aging
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• about 50% of mice die either in late gestation or perinatally
• Background Sensitivity: penetrance of lethality is decreased compared to mice on a congenic C57BL/6 background
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Allelic
Composition |
Ptpn11tm1Bgn/Ptpn11+
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Genetic
Background |
involves: 129S4/SvJae * C57BL/6 |
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptpn11tm1Bgn mutation
(1 available);
any
Ptpn11 mutation
(43 available)
|
|
|
mortality/aging
|
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• about 50% of mice die either in late gestation or perinatally
• Background Sensitivity: penetrance of lethality is decreased compared to mice on a congenic C57BL/6 background
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cardiovascular system
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• from 24 - 48 hours in culture endocardial cushions from E9.5 embryos give rise to more mesenchymal cells compared to wild-type controls
• expression analysis indicates that enhanced production of mesenchymal cells is due to a prolongation of the normal interval during which EMT occurs
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growth/size/body
hematopoietic system
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• increase in the number of CFU-GM in the absence of cytokines compared to wild-type controls
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vision/eye
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• increased inner canthal distance
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Allelic
Composition |
Ptpn11tm1Bgn/Ptpn11+
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Genetic
Background |
involves: 129S4/SvJae * C57BL/6J |
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptpn11tm1Bgn mutation
(1 available);
any
Ptpn11 mutation
(43 available)
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mortality/aging
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• at E18.5 some heterozygous embryos are dead and about 50% fewer than expected heterozygotes are found at weaning
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cardiovascular system
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• enlarged atrioventricular valve primordia are seen in about 50% of heterozygotes (severely affected mutants)
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• double outlet right ventricle is seen in about 50% of heterozygotes (severely affected mutants)
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• enlarged mitral valves are seen in about 50% of heterozygotes (not severely affected) at E13.5 but not at E18.5
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• at E13.5 ventricular septal defects are seen in about 50% of heterozygotes (severely affected mutants)
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• decreased apoptosis is seen in endocardial cushions from some heterozygous mutants
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cellular
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• decreased apoptosis is seen in endocardial cushions from some heterozygous mutants
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• at E13.5 some heterozygotes display mild liver damage
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• increased cellular proliferation is seen in endocardial cushions from some heterozygous mutants
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craniofacial
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• consistent with the decreased body size the skull is smaller than normal however width is not different from wild-type resulting in a greater length/width ratio
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• a wider and blunter snout shape is seen
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• a wider and blunter snout shape is seen
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growth/size/body
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• a wider and blunter snout shape is seen
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• a wider and blunter snout shape is seen
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• a significant reduction in body weight and length is seen without altering overall body proportions
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• a significant reduction in body weight and length is seen without altering overall body proportions
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• older heterozygotes develop splenomegaly with mild myeloid and erythroid hyperplasia
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hematopoietic system
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• older heterozygotes develop splenomegaly with mild myeloid and erythroid hyperplasia
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• mild myeloid hyperplasia is seen in the bone marrow of older heterozygotes
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• by 5 months heterozygotes develop mild leukocytosis with normal hematocrit and platelet counts
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immune system
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• older heterozygotes develop splenomegaly with mild myeloid and erythroid hyperplasia
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• mild myeloid hyperplasia is seen in the bone marrow of older heterozygotes
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• by 5 months heterozygotes develop mild leukocytosis with normal hematocrit and platelet counts
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liver/biliary system
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• at E13.5 some heterozygotes display mild liver damage
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skeleton
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• consistent with the decreased body size the skull is smaller than normal however width is not different from wild-type resulting in a greater length/width ratio
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muscle
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• decreased apoptosis is seen in endocardial cushions from some heterozygous mutants
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Analysis Tools