Mouse Genome Informatics
hm
    Ptpn11tm1Paw/Ptpn11tm1Paw
involves: 129S1/Sv * 129X1/SvJ * CD-1
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging

growth/size
• E8.5 embryos are small and appear similar in size to wild-type E7.5 embryos

embryogenesis
• do not initiate the process of turning
• development of axial mesodermal structures is severely affected
• about 30% fail to develop an A-P axis or any recognizable embryonic structures
• E8.5 embryos fail to elongate posteriorly
• some E9.5 embryos develop a defined A-P axis, however all exhibit varying degrees of posterior truncations
• variable neural tube defects
• disorganized neuroectoderm
• headfolds do not fuse at the midline at E9
• severely affected mutants have a kinked neural tube
• E8.5 embryos do not develop a notochord
• abnormal notochord at E9.5; some have multiple, split, or kinked notochords
• poorly developed somites, with some mutants able to form somites whereas others fail to make any recognizable somites
• allantois does not develop properly and does not connect to the placenta
• yolk sac is abnormally thin and wrinkled
• yolk sac blood vessels fail to re-organize into a highly vascularized network at E9.5 and remain in a honeycombed pattern seen in E8.5 wild-type embryos, however vasculogenesis and production of the capillary plexus occurs normally
• thick-walled blood vessels do not form in yolk sacs
• 30% arrest development prior to the formation of recognizable structures
• E8.5 embryos are small and appear similar in size to wild-type E7.5 embryos

cardiovascular system
• yolk sac blood vessels fail to re-organize into a highly vascularized network at E9.5 and remain in a honeycombed pattern seen in E8.5 wild-type embryos, however vasculogenesis and production of the capillary plexus occurs normally
• thick-walled blood vessels do not form in yolk sacs
• heart forms abnormally

nervous system
• variable neural tube defects
• disorganized neuroectoderm
• headfolds do not fuse at the midline at E9
• severely affected mutants have a kinked neural tube

Mouse Models of Human Disease
OMIM IDRef(s)
NOT Noonan Syndrome 1; NS1 163950 J:43740