Mouse Genome Informatics
ht
    Ptpn11tm4.2Bgn/Ptpn11+
involves: 129S6/SvEvTac * C57BL/6J * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• by 52 weeks, more mice die than wild-type mice

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

cardiovascular system
N
• mice exhibit normal valvular development and no septal defects (J:172033)
• 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
• with pectus carinatum superiorly and 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

respiratory system
• planar nasal bridge

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

hematopoietic system
N
• mice exhibit normal hematological parameters (J:172033)

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
OMIM IDRef(s)
Leopard Syndrome 1 151100 J:172033