Mouse Genome Informatics
hm1
    Ptpn11tm1Rbn/Ptpn11tm1Rbn
involves: 129 * Black Swiss
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• homozygotes die prior to E10.5; at this stage, 44% of mutant embryos are resorbed

reproductive system
• litter size from heterozygous breeding pairs averages 6.2 2.0 relative to 10.8 2.0 for heterozygous male wild-type female crosses

Mouse Models of Human Disease
OMIM IDRef(s)
NOT Noonan Syndrome 1; NS1 163950 J:35137


Mouse Genome Informatics
ht2
    Ptpn11tm1Rbn/Ptpn11+
involves: 129 * Black Swiss
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
normal phenotype
• heterozygotes show no significant differences in body weight, plasma insulin, glucose levels during fasting or after a glucose challenge, insulin-stimulated glucose uptake in soleus muscle and adipocytes, and insulin-inhibited lipolysis in adipocytes relative to wild-type mice

Mouse Models of Human Disease
OMIM IDRef(s)
NOT Noonan Syndrome 1; NS1 163950 J:35137


Mouse Genome Informatics
cx3
    Egfrwa2/Egfrwa2
Ptpn11tm1Rbn/Ptpn11+

involves: 129 * B6EiC3Sn-a/A-Egfrwa2 Wnt3avt
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• fewer mutants than predicted are seen at P10, however observe no deaths between P1 and P10, indicating embryonic lethality or death soon after birth

cardiovascular system
• develop myocardial hypertrophy
• exhibit semilunar valve enlargement resulting from over-abundant mesenchymal cells, however atrioventricular valves and interventricular septum are unaffected
• valve abnormalities persist into adulthood causing mild to moderate aortic stenosis
• aortic valve is thickened
• pulmonary valve is thickened
• valve abnormalities persist into adulthood causing moderate to severe regurgitation
• elevation in left-ventricular-end-diastolic pressures, reflecting diastolic dysfunction and possibly incipient heart failure
• higher peak left ventricular systolic pressure and a trend towards increased +dP/dT
• severe conduction system abnormalities
• slightly prolonged QRS
• prolonged ST interval
• occasionally show cardiac dilation characteristic of congestive heart failure

vision/eye
• display defective eyelid closure