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Phenotypes Associated with This Genotype
Genotype
MGI:2176525
Allelic
Composition
Ptpn11tm1Paw/Ptpn11tm1Paw
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptpn11tm1Paw mutation (1 available); any Ptpn11 mutation (24 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• die around E10-11 (J:43740)
• die around E10-11 (J:43740)

growth/size/body
• E8.5 embryos are small and appear similar in size to wild-type E7.5 embryos (J:43740)
• E8.5 embryos are small and appear similar in size to wild-type E7.5 embryos (J:43740)

embryogenesis
• do not initiate the process of turning (J:43740)
• do not initiate the process of turning (J:43740)
• development of axial mesodermal structures is severely affected (J:43740)
• development of axial mesodermal structures is severely affected (J:43740)
• about 30% fail to develop an A-P axis or any recognizable embryonic structures (J:43740)
• E8.5 embryos fail to elongate posteriorly (J:43740)
• about 30% fail to develop an A-P axis or any recognizable embryonic structures (J:43740)
• E8.5 embryos fail to elongate posteriorly (J:43740)
• some E9.5 embryos develop a defined A-P axis, however all exhibit varying degrees of posterior truncations (J:43740)
• some E9.5 embryos develop a defined A-P axis, however all exhibit varying degrees of posterior truncations (J:43740)
• variable neural tube defects (J:43740)
• variable neural tube defects (J:43740)
• disorganized neuroectoderm (J:43740)
• disorganized neuroectoderm (J:43740)
• headfolds do not fuse at the midline at E9 (J:43740)
• headfolds do not fuse at the midline at E9 (J:43740)
• severely affected mutants have a kinked neural tube (J:43740)
• severely affected mutants have a kinked neural tube (J:43740)
• E8.5 embryos do not develop a notochord (J:43740)
• abnormal notochord at E9.5; some have multiple, split, or kinked notochords (J:43740)
• E8.5 embryos do not develop a notochord (J:43740)
• abnormal notochord at E9.5; some have multiple, split, or kinked notochords (J:43740)
• poorly developed somites, with some mutants able to form somites whereas others fail to make any recognizable somites (J:43740)
• poorly developed somites, with some mutants able to form somites whereas others fail to make any recognizable somites (J:43740)
• allantois does not develop properly and does not connect to the placenta (J:43740)
• allantois does not develop properly and does not connect to the placenta (J:43740)
• yolk sac is abnormally thin and wrinkled (J:43740)
• yolk sac is abnormally thin and wrinkled (J:43740)
• 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 (J:43740)
• thick-walled blood vessels do not form in yolk sacs (J:43740)
• 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 (J:43740)
• thick-walled blood vessels do not form in yolk sacs (J:43740)
• 30% arrest development prior to the formation of recognizable structures (J:43740)
• 30% arrest development prior to the formation of recognizable structures (J:43740)
• E8.5 embryos are small and appear similar in size to wild-type E7.5 embryos (J:43740)
• E8.5 embryos are small and appear similar in size to wild-type E7.5 embryos (J:43740)

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 (J:43740)
• thick-walled blood vessels do not form in yolk sacs (J:43740)
• 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 (J:43740)
• thick-walled blood vessels do not form in yolk sacs (J:43740)
• heart forms abnormally (J:43740)
• heart forms abnormally (J:43740)

nervous system
• variable neural tube defects (J:43740)
• variable neural tube defects (J:43740)
• disorganized neuroectoderm (J:43740)
• disorganized neuroectoderm (J:43740)
• headfolds do not fuse at the midline at E9 (J:43740)
• headfolds do not fuse at the midline at E9 (J:43740)
• severely affected mutants have a kinked neural tube (J:43740)
• severely affected mutants have a kinked neural tube (J:43740)

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


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
01/26/2016
MGI 6.02
The Jackson Laboratory