About   Help   FAQ
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 (0 available); any Ptpn11 mutation (46 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

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

embryo
• do not initiate the process of turning
• 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
• 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
• development of axial mesodermal structures is severely affected
• 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

cardiovascular system
• 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
DO ID OMIM ID(s) Ref(s)
NOT Noonan syndrome 1 DOID:0060578 OMIM:163950
J:43740


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
12/10/2024
MGI 6.24
The Jackson Laboratory