Phenotypes associated with this allele

• Allele Symbol: Ptpn11^tm1Rbn
• Allele Name: targeted mutation 1, Daniel U Rabin
• Allele ID: MGI:2176526
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ptpn11^tm1Rbn/Ptpn11^tm1Rbn	involves: 129 * Black Swiss	MGI:2176527
ht2	Ptpn11^tm1Rbn/Ptpn11^+	involves: 129 * Black Swiss	MGI:2176529
cx3	Egfr^wa2/Egfr^wa2 Ptpn11^tm1Rbn/Ptpn11^+	involves: 129 * B6EiC3Sn-a/A-Egfr^wa2 Wnt3a^vt	MGI:2176546

Genotype
MGI:2176527

hm1

• Allelic Composition: Ptpn11^tm1Rbn/Ptpn11^tm1Rbn
• Genetic Background: involves: 129 * Black Swiss

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

embryonic lethality, complete penetrance ( J:35137 )

• homozygotes die prior to E10.5; at this stage, 44% of mutant embryos are resorbed

reproductive system

decreased litter size ( J:35137 )

• litter size from heterozygous breeding pairs averages 6.2 +/- 2.0 relative to 10.8 +/- 2.0 for heterozygous male x wild-type female crosses

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	Noonan syndrome 1	DOID:0060578	OMIM:163950	J:35137

Genotype
MGI:2176529

ht2

• Allelic Composition: Ptpn11^tm1Rbn/Ptpn11⁺
• Genetic Background: involves: 129 * Black Swiss

normal phenotype

no abnormal phenotype detected ( J:35137 )

• 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		DO ID	OMIM ID(s)	Ref(s)
NOT	Noonan syndrome 1	DOID:0060578	OMIM:163950	J:35137

Genotype
MGI:2176546

cx3

• Allelic Composition: Egfr^wa2/Egfr^wa2; Ptpn11^tm1Rbn/Ptpn11⁺
• Genetic Background: involves: 129 * B6EiC3Sn-a/A-Egfr^wa2 Wnt3a^vt

muscle

myocardium hypertrophy ( J:60750 )

• develop myocardial hypertrophy

mortality/aging

perinatal lethality, incomplete penetrance ( J:60750 )

• 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

myocardium hypertrophy ( J:60750 )

• develop myocardial hypertrophy

aortic valve stenosis ( J:60750 )

• valve abnormalities persist into adulthood causing mild to moderate aortic stenosis

thick aortic valve ( J:60750 )

• aortic valve is thickened

thick pulmonary valve ( J:60750 )

• pulmonary valve is thickened

enlarged semilunar valve ( J:60750 )

• exhibit semilunar valve enlargement resulting from over-abundant mesenchymal cells

• however, atrioventricular valves and interventricular septum are unaffected

aortic valve regurgitation ( J:60750 )

• valve abnormalities persist into adulthood causing moderate to severe regurgitation

increased left ventricle diastolic pressure ( J:60750 )

• elevation in left-ventricular-end-diastolic pressures, reflecting diastolic dysfunction and possibly incipient heart failure

increased left ventricle systolic pressure ( J:60750 )

• higher peak left ventricular systolic pressure and a trend towards increased +dP/dT

abnormal impulse conducting system conduction ( J:60750 )

• severe conduction system abnormalities

prolonged RR interval ( J:60750 )

prolonged PR interval ( J:60750 )

prolonged QRS complex duration ( J:60750 )

• slightly prolonged QRS

prolonged QT interval ( J:60750 )

prolonged ST segment ( J:60750 )

• prolonged ST interval

increased systemic arterial blood pressure ( J:60750 )

congestive heart failure ( J:60750 )

• occasionally show cardiac dilation characteristic of congestive heart failure

vision/eye

eyelids open at birth ( J:60750 )

• display defective eyelid closure

growth/size/body

myocardium hypertrophy ( J:60750 )

• develop myocardial hypertrophy