Mouse Genome Informatics
ht
    Ptpn11tm1Bgn/Ptpn11+
involves: 129S4/SvJae * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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
• 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
• by 5 months heterozygotes develop mild leukocytosis with normal hematocrit and platelet counts
• mild myeloid hyperplasia is seen in the bone marrow of older heterozygotes
• older heterozygotes develop splenomegaly with mild myeloid and erythroid hyperplasia

immune system
• by 5 months heterozygotes develop mild leukocytosis with normal hematocrit and platelet counts
• mild myeloid hyperplasia is seen in the bone marrow of older heterozygotes
• 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 IDRef(s)
Noonan Syndrome 1; NS1 163950 J:91609