Table 1 Ependymal cilia defects are proportionate to the catalytic activities of various mutant forms of SHP2.

Brain sections prepared from 12-month-old mice (n = 3 mice per genotype) were immunofluorescently stained for acetyl α-tubulin to mark cilia, and the ependymal cilia on the walls of ventricles were examined. NS, Noonan syndrome; NSML, NS with multiple lentigines.

MiceCatalytic activity of
mutant SHP2
Ependymal cilia
Ptpn11E76K/+/
Nestin-Cre+
Substantially
enhanced
Severely abnormal
Ptpn11D61G/+
(NS mice)
EnhancedAbnormal in some
areas*
Ptpn11Y279C/+
(NSML mice)
No catalytic activityNormal

*Ependymal cilia of the third ventricle but not the lateral ventricles were abnormal.