Phenotypes associated with this allele
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptpn11tm4.2Bgn mutation
(1 available);
any
Ptpn11 mutation
(43 available)
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cardiovascular system
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• increased interventricular septum wall (IVS) thickness
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• increased heart weight and HW to body weight ratio at age 16 weeks
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• increased left ventricular posterior wall (LVPW) thickness at age 16 weeks
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growth/size/body
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• increased heart weight and HW to body weight ratio at age 16 weeks
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Allelic Composition |
Ptpn11tm4.2Bgn/Ptpn11+
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Genetic Background |
involves: 129S6/SvEvTac * C57BL/6J * FVB/N |
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptpn11tm4.2Bgn mutation
(1 available);
any
Ptpn11 mutation
(43 available)
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Ptpn11tm4.2Bgn/Ptpn11+ mice demonstrate phenotypic abnormalities similar to those in human Leopard syndrome (LS)
mortality/aging
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• by 52 weeks, more mice die than wild-type mice
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respiratory system
reproductive system
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• mice exhibit abnormal genitals compared with wild-type mice
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cardiovascular system
N |
• mice exhibit normal valvular development and no septal defects
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• adult cardiomyocytes exhibit enlarged area and increased cell width compared to in wild-type mice
• however, rapamycin treatment rescues cardiomyocyte size
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• at 12 and 16 weeks
• however, treatment with rapamycin rescues heart weight
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• with enlarged nuclei, myofiber disarray, and inflammatory cell accumulation in interstitial fiber
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• at 16 weeks, mice exhibit thickened left ventricular free wall compared with wild-type mice
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• by 52 weeks, with increased diastolic dimension and thinning of the posterior walls
• however, treatment with rapamycin normalizes hypertrophic cardiomyopathy
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craniofacial
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• mice exhibit increased skull width-to-length ratio compared with wild-type mice
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• with smaller, more slanted eyes and a planar nasal bridge
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growth/size/body
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• at 12 and 16 weeks
• however, treatment with rapamycin rescues heart weight
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• with enlarged nuclei, myofiber disarray, and inflammatory cell accumulation in interstitial fiber
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• with smaller, more slanted eyes and a planar nasal bridge
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• skeletal/chest abnormalities
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• pectus carinatum superiorly
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• pectus excavatum inferiorly
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skeleton
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• mice exhibit increased skull width-to-length ratio compared with wild-type mice
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vision/eye
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• smaller, more slanted eyes
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• with normal inner canthal distance
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hearing/vestibular/ear
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• macrophages accumulate in the organ of Corti unlike in wild-type mice
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hematopoietic system
N |
• mice exhibit normal hematological parameters
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limbs/digits/tail
muscle
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• adult cardiomyocytes exhibit enlarged area and increased cell width compared to in wild-type mice
• however, rapamycin treatment rescues cardiomyocyte size
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• by 52 weeks, with increased diastolic dimension and thinning of the posterior walls
• however, treatment with rapamycin normalizes hypertrophic cardiomyopathy
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mpzl1em1Ambt mutation
(0 available);
any
Mpzl1 mutation
(20 available)
Ptpn11tm4.2Bgn mutation
(1 available);
any
Ptpn11 mutation
(43 available)
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cardiovascular system
N |
• normal heart weight (HW) and HW to body weight (BW) and tibia length (TL) ratios and interventricular septum wall (IVS) and left ventricular posterior wall (LVPW) thickness at age 16 weeks
• no myocardial fibrosis
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growth/size/body
N |
• normal heart weight (HW) and HW to body weight (BW) and tibia length (TL) ratios at age 16 weeks
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