Phenotypes Associated with This Genotype

Genotype
MGI:3050469

• Allelic Composition: Ptpn11^tm1Bgn/Ptpn11⁺
• Genetic Background: involves: 129S4/SvJae * C57BL/6J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

perinatal lethality, incomplete penetrance ( J:91609 )

• at E18.5 some heterozygous embryos are dead and about 50% fewer than expected heterozygotes are found at weaning

cardiovascular system

abnormal heart development ( J:91609 )

• enlarged atrioventricular valve primordia are seen in about 50% of heterozygotes (severely affected mutants)

double outlet right ventricle ( J:91609 )

• double outlet right ventricle is seen in about 50% of heterozygotes (severely affected mutants)

enlarged mitral valve ( J:91609 )

• enlarged mitral valves are seen in about 50% of heterozygotes (not severely affected) at E13.5 but not at E18.5

ventricular septal defect ( J:91609 )

• at E13.5 ventricular septal defects are seen in about 50% of heterozygotes (severely affected mutants)

cellular

decreased cardiomyocyte apoptosis ( J:91609 )

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

increased cell proliferation ( J:91609 )

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

craniofacial

small cranium ( J:91609 )

• 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

broad snout ( J:91609 )

• a wider and blunter snout shape is seen

flattened snout ( J:91609 )

• a wider and blunter snout shape is seen

growth/size/body

broad snout ( J:91609 )

• a wider and blunter snout shape is seen

flattened snout ( J:91609 )

• a wider and blunter snout shape is seen

decreased body weight ( J:91609 )

• a significant reduction in body weight and length is seen without altering overall body proportions

decreased body length ( J:91609 )

• a significant reduction in body weight and length is seen without altering overall body proportions

enlarged spleen ( J:91609 )

• older heterozygotes develop splenomegaly with mild myeloid and erythroid hyperplasia

hematopoietic system

enlarged spleen ( J:91609 )

• older heterozygotes develop splenomegaly with mild myeloid and erythroid hyperplasia

myeloid hyperplasia ( J:91609 )

• mild myeloid hyperplasia is seen in the bone marrow of older heterozygotes

increased leukocyte cell number ( J:91609 )

• by 5 months heterozygotes develop mild leukocytosis with normal hematocrit and platelet counts

increased neutrophil cell number ( J:91609 )

increased lymphocyte cell number ( J:91609 )

immune system

enlarged spleen ( J:91609 )

• older heterozygotes develop splenomegaly with mild myeloid and erythroid hyperplasia

myeloid hyperplasia ( J:91609 )

• mild myeloid hyperplasia is seen in the bone marrow of older heterozygotes

increased leukocyte cell number ( J:91609 )

• by 5 months heterozygotes develop mild leukocytosis with normal hematocrit and platelet counts

increased neutrophil cell number ( J:91609 )

increased lymphocyte cell number ( J:91609 )

liver/biliary system

hepatic necrosis ( J:91609 )

• at E13.5 some heterozygotes display mild liver damage

skeleton

small cranium ( J:91609 )

• 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 cardiomyocyte apoptosis ( J:91609 )

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

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Noonan syndrome 1		DOID:0060578	OMIM:163950	J:91609