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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Ptpn11tm1Paw
targeted mutation 1, Anthony Pawson
MGI:2176524
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Ptpn11tm1Paw/Ptpn11tm1Paw involves: 129S1/Sv * 129X1/SvJ MGI:3621559
hm2
Ptpn11tm1Paw/Ptpn11tm1Paw involves: 129S1/Sv * 129X1/SvJ * CD-1 MGI:2176525
cx3
Egfrwa2/Egfrwa2
Ptpn11tm1Paw/Ptpn11+
involves: 129S1/Sv * 129X1/SvJ * B6EiC3Sn a/A-Egfrwa2 Wnt3avt * C57BL/6 MGI:2176569


Genotype
MGI:3621559
hm1
Allelic
Composition
Ptpn11tm1Paw/Ptpn11tm1Paw
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptpn11tm1Paw mutation (0 available); any Ptpn11 mutation (43 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• cultured trophoblast stem cells exhibit an increase in ploidy under differentiating conditions
• null trophoblast stem cells die rapidly in culture
• mutation causes decreased trophoblast stem cell proliferation and colony formation in culture




Genotype
MGI:2176525
hm2
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 (43 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




Genotype
MGI:2176569
cx3
Allelic
Composition
Egfrwa2/Egfrwa2
Ptpn11tm1Paw/Ptpn11+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * B6EiC3Sn a/A-Egfrwa2 Wnt3avt * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Egfrwa2 mutation (3 available); any Egfr mutation (85 available)
Ptpn11tm1Paw mutation (0 available); any Ptpn11 mutation (43 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Defects in the skin, lung and intestine of Egfrwa2/Egfrwa2 Ptpn11tm1Paw/+ mice

mortality/aging
• only 30% survive to weaning, with most dying within 7-10 days after birth

growth/size/body
• exhibit progressive wasting

muscle
• lumen of stomach and small and large bowels are filled with desquamated epithelial cells, suggesting lack of peristalsis
• decrease in the size of subcutaneous muscle tissue

respiratory system
• lungs are immaturely developed with poorly inflated areas
• increase in thickness and cell masses of the alveolar septae
• display breathing difficulties

vision/eye

adipose tissue
• decrease in the size of subcutaneous fat tissue

digestive/alimentary system
• the muscle layer of the bowel is poorly organized and is decreased in thickness
• lumen of stomach and small and large bowels are filled with desquamated epithelial cells, suggesting lack of peristalsis

integument
• decrease in the size of subcutaneous fat tissue
• little hair outgrowth
• poorly developed hair follicles
• hair follicles are disordered
• skin contains no or few disorganized hair follicles
• hypotrophy in the epidermis
• skin gradually becomes dry and flaky
• skin gradually becomes dry and flaky





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last database update
04/16/2024
MGI 6.23
The Jackson Laboratory