Symbol
Name
ID

Ptpn11
protein tyrosine phosphatase, non-receptor type 11
MGI:99511

Phenotype annotations related to nervous system

Darker colors indicate more annotations

Human Phenotypes	Hyposmia	Spina bifida occulta	Cranial nerve paralysis	Abnormality of speech or vocalization	Dysarthria	Intellectual disability	Intellectual disability, mild	Neurodevelopmental delay	Specific learning disability
Disease(s) Associated with PTPN11	Hyposmia	Spina bifida occulta	Cranial nerve paralysis	Abnormality of speech or vocalization	Dysarthria	Intellectual disability	Intellectual disability, mild	Neurodevelopmental delay	Specific learning disability
metachondromatosis
Noonan syndrome
Noonan syndrome 1
Noonan syndrome with multiple lentigines 1

Mouse Phenotypes

abnormal axon extension

abnormal axon fasciculation

abnormal neural tube morphology

abnormal embryonic neuroepithelium morphology

decreased enteric neural crest cell number

open neural tube

kinked neural tube

abnormal hippocampus neuron morphology

decreased Schwann cell precursor number

absent Schwann cell precursors

decreased Schwann cell number

abnormal sensory neuron innervation pattern

decreased motor neuron number

decreased sensory neuron number

retina ganglion cell degeneration

optic nerve atrophy

abnormal Schwann cell physiology

abnormal myelination

decreased nerve conduction velocity

Availability

Mouse Genotype

Ptpn11^tm1Paw/Ptpn11^tm1Paw

Ptpn11^tm1.1Wbm/Ptpn11^tm1.1Wbm
H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺ (conditional)

Ptpn11^tm1.1Wbm/Ptpn11^tm1.1Wbm (conditional)

Egr2^tm2(cre)Pch/Egr2⁺
Ptpn11^tm1.1Wbm/Ptpn11^tm1.1Wbm (conditional)

Ptpn11^tm1.1Wbm/Ptpn11^tm1.1Wbm
Tg(Dhh-cre)1Mejr/0 (conditional)

Ptpn11^tm1Gsf/Ptpn11^tm1Gsf
Tg(Six3-cre)69Frty/0 (conditional)

Emx1^tm1(cre)Krj/Emx1⁺
Ptpn11^tm6Bgn/Ptpn11⁺ (conditional)

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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