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Phenotypes Associated with This Genotype
Genotype
MGI:3050469
Allelic
Composition
Ptpn11tm1Bgn/Ptpn11+
Genetic
Background
involves: 129S4/SvJae * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptpn11tm1Bgn mutation (1 available); any Ptpn11 mutation (24 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• at E18.5 some heterozygous embryos are dead and about 50% fewer than expected heterozygotes are found at weaning

cardiovascular system
• enlarged atrioventricular valve primordia are seen in about 50% of heterozygotes (severely affected mutants)
• double outlet right ventricle is seen in about 50% of heterozygotes (severely affected mutants)
• enlarged mitral valves are seen in about 50% of heterozygotes (not severely affected) at E13.5 but not at E18.5
• at E13.5 ventricular septal defects are seen in about 50% of heterozygotes (severely affected mutants)
• decreased apoptosis is seen in endocardial cushions from some heterozygous mutants

cellular
• decreased apoptosis is seen in endocardial cushions from some heterozygous mutants
• increased cellular proliferation is seen in endocardial cushions from some heterozygous mutants

craniofacial
• 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
• a wider and blunter snout shape is seen

growth/size/body
• a wider and blunter snout shape is seen
• a significant reduction in body weight and length is seen without altering overall body proportions
• a significant reduction in body weight and length is seen without altering overall body proportions

hematopoietic system
• mild myeloid hyperplasia is seen in the bone marrow of older heterozygotes
• by 5 months heterozygotes develop mild leukocytosis with normal hematocrit and platelet counts
• older heterozygotes develop splenomegaly with mild myeloid and erythroid hyperplasia

immune system
• mild myeloid hyperplasia is seen in the bone marrow of older heterozygotes
• by 5 months heterozygotes develop mild leukocytosis with normal hematocrit and platelet counts
• older heterozygotes develop splenomegaly with mild myeloid and erythroid hyperplasia

liver/biliary system
• at E13.5 some heterozygotes display mild liver damage

skeleton
• 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

muscle
• decreased apoptosis is seen in endocardial cushions from some heterozygous mutants

Mouse Models of Human Disease
OMIM ID Ref(s)
Noonan Syndrome 1; NS1 163950 J:91609


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
07/12/2016
MGI 6.04
The Jackson Laboratory