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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Ptpn11tm1Rbn
targeted mutation 1, Daniel U Rabin
MGI:2176526
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Ptpn11tm1Rbn/Ptpn11tm1Rbn involves: 129 * Black Swiss MGI:2176527
ht2
Ptpn11tm1Rbn/Ptpn11+ involves: 129 * Black Swiss MGI:2176529
cx3
Egfrwa2/Egfrwa2
Ptpn11tm1Rbn/Ptpn11+
involves: 129 * B6EiC3Sn-a/A-Egfrwa2 Wnt3avt MGI:2176546


Genotype
MGI:2176527
hm1
Allelic
Composition
Ptpn11tm1Rbn/Ptpn11tm1Rbn
Genetic
Background
involves: 129 * Black Swiss
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptpn11tm1Rbn mutation (0 available); any Ptpn11 mutation (24 available)
phenotype observed in females
phenotype observed in males
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 ID Ref(s)
NOT Noonan Syndrome 1; NS1 163950 J:35137




Genotype
MGI:2176529
ht2
Allelic
Composition
Ptpn11tm1Rbn/Ptpn11+
Genetic
Background
involves: 129 * Black Swiss
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptpn11tm1Rbn mutation (0 available); any Ptpn11 mutation (24 available)
phenotype observed in females
phenotype observed in males
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 ID Ref(s)
NOT Noonan Syndrome 1; NS1 163950 J:35137




Genotype
MGI:2176546
cx3
Allelic
Composition
Egfrwa2/Egfrwa2
Ptpn11tm1Rbn/Ptpn11+
Genetic
Background
involves: 129 * B6EiC3Sn-a/A-Egfrwa2 Wnt3avt
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Egfrwa2 mutation (6 available); any Egfr mutation (33 available)
Ptpn11tm1Rbn mutation (0 available); any Ptpn11 mutation (24 available)
phenotype observed in females
phenotype observed in males
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





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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/26/2016
MGI 6.03
The Jackson Laboratory