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Symbol
Name
ID

Ptch1
patched 1
MGI:105373

Phenotype annotations related to craniofacial

Darker colors indicate more annotations

Human Phenotypes

Abnormal skull morphology

Frontal bossing

Flat occiput

Parietal bossing

Brachycephaly

Cranial asymmetry

Mandibular prognathia

Hypoplasia of the premaxilla

Hypoplasia of the zygomatic bone

Shallow orbits

Bridged sella turcica

Dandy-Walker malformation

Microcephaly

Macrocephaly

Encephalocele

Abnormal facial shape

Coarse facial features

Flat face

Broad face

Midface retrusion

Broad philtrum

Deep philtrum

Cleft upper lip

Median cleft upper lip

Bilateral cleft lip

Unilateral cleft lip

Cleft palate

Median cleft palate

Bilateral cleft palate

Unilateral cleft palate

Solitary median maxillary central incisor

Tooth agenesis

Carious teeth

Odontogenic keratocysts of the jaw

Orofacial cleft

Choanal atresia

Anteverted nares

Flat nasal alae

Depressed nasal ridge

Depressed nasal tip

Wide nasal bridge

Absent nasal septal cartilage

Hypoplastic nasal septum

Absent nares

Aplasia/Hypoplasia involving the nose

Midline defect of the nose

Bifid nose

Short nose

Abnormality of the sense of smell

Anosmia

Hyposmia

Highly arched eyebrow

Synophrys

Thick eyebrow

Blepharophimosis

Upslanted palpebral fissure

Epicanthus

Telecanthus

Orbital cyst

Underdeveloped supraorbital ridges

Disease(s) Associated with PTCH1

holoprosencephaly

holoprosencephaly 7

nevoid basal cell carcinoma syndrome

nevoid basal cell carcinoma syndrome 1

Mouse Phenotypes

abnormal craniofacial morphology

abnormal lambdoid suture morphology

abnormal cranium morphology

abnormal basicranium morphology

abnormal basisphenoid bone morphology

small basisphenoid bone

abnormal neurocranium morphology

abnormal frontal bone morphology

abnormal interparietal bone morphology

abnormal parietal bone morphology

alisphenoid bone hypoplasia

absent presphenoid bone

abnormal upper incisor morphology

abnormal enamel morphology

mandibular coronoid process hypoplasia

short mandibular coronoid process

mandibular cyst

domed cranium

abnormal mandibular prominence morphology

abnormal maxillary prominence morphology

abnormal nasal placode morphology

palatal shelf hypoplasia

absent palatal shelf

absent fourth pharyngeal arch

small second pharyngeal arch

absent third pharyngeal arch

cleft secondary palate

shortened head

Availability

Mouse Genotype

Ptch1^dl/Ptch1^dl

Ptch1^mes/Ptch1^mes

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

Ptch1^wig/Ptch1^wig

Ptch1^dl/Ptch1^tm1Mps

Ptch1^dl/Ptch1^tm1Zim

Ptch1^tm1Kmmt/Ptch1⁺

Ptch1^tm1Zim/Ptch1⁺

Ptch1^tm1Yy/Ptch1^tm1.1Yy
Tg(Col2a1-cre)1Bhr/0 (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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