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Phenotypes Associated with This Genotype
Genotype
MGI:5004709
Allelic
Composition
Ptpn11tm4.2Bgn/Ptpn11+
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6J * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptpn11tm4.2Bgn mutation (1 available); any Ptpn11 mutation (43 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Ptpn11tm4.2Bgn/Ptpn11+ mice demonstrate phenotypic abnormalities similar to those in human Leopard syndrome (LS)

mortality/aging
• by 52 weeks, more mice die than wild-type mice

respiratory system
• planar nasal bridge

reproductive system
• mice exhibit abnormal genitals compared with wild-type mice

cardiovascular system
N
• mice exhibit normal valvular development and no septal defects
• adult cardiomyocytes exhibit enlarged area and increased cell width compared to in wild-type mice
• however, rapamycin treatment rescues cardiomyocyte size
• by 12 weeks
• at 12 and 16 weeks
• however, treatment with rapamycin rescues heart weight
• with enlarged nuclei, myofiber disarray, and inflammatory cell accumulation in interstitial fiber
• at 16 weeks, mice exhibit thickened left ventricular free wall compared with wild-type mice
• in older mice
• by 52 weeks, with increased diastolic dimension and thinning of the posterior walls
• however, treatment with rapamycin normalizes hypertrophic cardiomyopathy

craniofacial
• mice exhibit increased skull width-to-length ratio compared with wild-type mice
• with smaller, more slanted eyes and a planar nasal bridge
• planar nasal bridge

growth/size/body
• by 12 weeks
• at 12 and 16 weeks
• however, treatment with rapamycin rescues heart weight
• with enlarged nuclei, myofiber disarray, and inflammatory cell accumulation in interstitial fiber
• with smaller, more slanted eyes and a planar nasal bridge
• planar nasal bridge
• skeletal/chest abnormalities
• pectus carinatum superiorly
• pectus excavatum inferiorly
• by weaning

skeleton
• mice exhibit increased skull width-to-length ratio compared with wild-type mice

vision/eye
• smaller, more slanted eyes
• with normal inner canthal distance

hearing/vestibular/ear
• macrophages accumulate in the organ of Corti unlike in wild-type mice

hematopoietic system
N
• mice exhibit normal hematological parameters

limbs/digits/tail

muscle
• adult cardiomyocytes exhibit enlarged area and increased cell width compared to in wild-type mice
• however, rapamycin treatment rescues cardiomyocyte size
• by 52 weeks, with increased diastolic dimension and thinning of the posterior walls
• however, treatment with rapamycin normalizes hypertrophic cardiomyopathy

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Noonan syndrome with multiple lentigines DOID:14291 OMIM:PS151100
J:172033


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)
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last database update
03/12/2024
MGI 6.23
The Jackson Laboratory