Mouse Genome Informatics
cn
    Tg(CAG-cat,-Ptpn11*Q97R)1Rbns/0
Tg(Wnt1-cre)11Rth/0

involves: C57BL/6J * CBA/J * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• mice that exhibit a cleft palate die within 5 days of birth

craniofacial
• mice exhibit craniofacial defects that become more pronounced with age
• however, treatment with U0126 restores skull size, length, mandibular bone length, inner canthal distance, and frontal bone height
• at E17.5 and P2, mice exhibit abnormal skull morphology
• however, treatment with U0126 restores skull size, length, mandibular bone length, inner canthal distance, and frontal bone height
• mice exhibit a reduced skull length compared to in wild-type mice
• however, treatment with U0126 restores frontal bone morphology
• mice exhibit larger than normal anterior fontanelle
• however, treatment with U0126 restores normal anterior fontanelle morphology
• mice exhibit taller frontal bone heights compared with wild-type mice
• however, treatment with U0126 restores frontal bone morphology
• proportional to the small skull length
• however, treatment with U0126 restores mandible length
• dome-shaped head
• in 21% of mice
• in 21% of mice
• nasal bones fails to fuse along the midline unlike in wild-type mice
• mice have a broad nose
• nasal cartilage fails to fuse along the midline unlike in wild-type mice

skeleton
• at E17.5 and P2, mice exhibit abnormal skull morphology
• however, treatment with U0126 restores skull size, length, mandibular bone length, inner canthal distance, and frontal bone height
• mice exhibit a reduced skull length compared to in wild-type mice
• however, treatment with U0126 restores frontal bone morphology
• mice exhibit larger than normal anterior fontanelle
• however, treatment with U0126 restores normal anterior fontanelle morphology
• mice exhibit taller frontal bone heights compared with wild-type mice
• however, treatment with U0126 restores frontal bone morphology
• proportional to the small skull length
• however, treatment with U0126 restores mandible length
• dome-shaped head
• nasal cartilage fails to fuse along the midline unlike in wild-type mice

growth/size
• in 21% of mice
• in 21% of mice
• nasal bones fails to fuse along the midline unlike in wild-type mice
• mice have a broad nose
• nasal cartilage fails to fuse along the midline unlike in wild-type mice
• mice exhibit a reduced body weight that is partially restored by treatment with U0126
• webbed neck
• mice exhibit a short stature that is partially restored by treatment with U0126
• pronounced at P2
• slightly at E17.5

embryogenesis
• neural crest cells fail to contribute to the parietal bone unlike in wild-type mice

hearing/vestibular/ear

vision/eye
• mice exhibit hypetelorism and a greater inner canthal distance compared with wild-type mice
• however, treatment with U0126 restores inner canthal distance

digestive/alimentary system
• in 21% of mice

respiratory system
• nasal bones fails to fuse along the midline unlike in wild-type mice
• mice have a broad nose
• nasal cartilage fails to fuse along the midline unlike in wild-type mice

integument
• webbed neck

cellular
• neural crest cells fail to contribute to the parietal bone unlike in wild-type mice

Mouse Models of Human Disease
OMIM IDRef(s)
Noonan Syndrome 1; NS1 163950 J:153094