Symbol
Name
ID

Ptch1
patched 1
MGI:105373

Phenotype annotations related to nervous system

*	Aspects of the system are reported to show a normal phenotype.
	Darker colors indicate more annotations

Human Phenotypes

Dandy-Walker malformation

Microcephaly

Encephalocele

Abnormality of the sense of smell

Anosmia

Hyposmia

Anterior hypopituitarism

Panhypopituitarism

Spasticity

Cerebral calcification

Calcification of falx cerebri

Abnormal nervous system morphology

Hypoplasia of the brainstem

Hydrocephalus

Aplasia/Hypoplasia of the corpus callosum

Agenesis of corpus callosum

Partial agenesis of the corpus callosum

Fusion of the left and right thalami

Aplasia/Hypoplasia of the cerebellum

Holoprosencephaly

Alobar holoprosencephaly

Lobar holoprosencephaly

Semilobar holoprosencephaly

Meningioma

Occipital meningocele

Spinal dysraphism

Spina bifida

Spinal cord tumor

Abnormality of neuronal migration

Medulloblastoma

Chorea

Cognitive impairment

Intellectual disability

Dystonia

Global developmental delay

Motor delay

Seizure

Disease(s) Associated with PTCH1

holoprosencephaly

holoprosencephaly 7

nevoid basal cell carcinoma syndrome

nevoid basal cell carcinoma syndrome 1

Mouse Phenotypes

nervous system phenotype

abnormal neuron differentiation

abnormal neuronal precursor proliferation

abnormal neural plate morphology

abnormal neural tube morphology

abnormal neural tube closure

incomplete rostral neuropore closure

open neural tube

craniorachischisis

increased medulloblastoma incidence

abnormal nervous system morphology

abnormal telencephalon development

abnormal cerebellum external granule cell layer morphology

abnormal rhombic lip morphology

abnormal diencephalon morphology

absent forebrain

abnormal cerebellum morphology

abnormal cerebellar molecular layer

enlarged cerebellum

abnormal vestibulocochlear ganglion morphology

exencephaly

abnormal neuronal precursor cell number

increased neuronal precursor cell number

abnormal cranial ganglia morphology

abnormal geniculate ganglion morphology

abnormal glossopharyngeal ganglion morphology

abnormal trigeminal ganglion morphology

Availability

Mouse Genotype

Ptch1^tm1.1Bjw/Ptch1^tm1.1Bjw

Ptch1^tm1.1Hahn/Ptch1^tm1.1Hahn

Ptch1^tm1Mps/Ptch1^tm1Mps

Ptch1^tm1Mps/Ptch1^tm1Mps
Tg(Mt1-Ptch1)MT22Mps/0

Ptch1^tm1Zim/Ptch1^tm1Zim

Ptch1^wig/Ptch1^wig

Ptch1^dl/Ptch1^tm1Mps

Ptch1^tm1.1Hahn/Ptch1⁺

Ptch1^tm1Mps/Ptch1⁺

Ptch1^tm1Mps/Ptch1⁺
Tg(Atoh1-GFP)1Jejo/?

Ptch1^tm1Zim/Ptch1⁺

Ptch1^tm1Bjw/Ptch1^tm1Bjw
Tg(Atoh1-cre)1Bfri/0 (conditional)

Ptch1^tm1Bjw/Ptch1^tm1Bjw
Tg(Atoh1-cre/Esr1*)14Fsh/0 (conditional)

Ptch1^tm1Bjw/Ptch1^tm1Bjw
Tg(GFAP-cre)25Mes/0 (conditional)

Ptch1^tm1Bjw/Ptch1^tm1Bjw (conditional)

Ptch1^tm1Cklr/Ptch1⁺
Pax7^tm1(cre)Mrc/Pax7⁺ (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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