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Symbol
Name
ID 		Shh
sonic hedgehog
MGI:98297
Phenotype annotations related to craniofacial
Darker colors indicate more annotations
Human Phenotypes
Abnormal skull morphology
Frontal bossing
Flat occiput
Hypoplasia of the zygomatic bone
Malar flattening
Dandy-Walker malformation
Microcephaly
Macrocephaly
Encephalocele
Abnormal facial shape
Midface retrusion
Broad philtrum
Deep philtrum
Cleft upper lip
Median cleft upper lip
Bilateral cleft lip
Cleft lip
Torus palatinus
Bifid uvula
Cleft palate
Median cleft palate
Prominent median palatal raphe
Solitary median maxillary central incisor
Tooth agenesis
Abnormality of the nose
Choanal atresia
Short columella
Anteverted nares
Depressed nasal ridge
Depressed nasal tip
Depressed nasal bridge
Midnasal stenosis
Absent nares
Single naris
Aplasia/Hypoplasia involving the nose
Proboscis
Pyriform aperture stenosis
Abnormal nasopharynx morphology
Anosmia
Hyposmia
Highly arched eyebrow
Synophrys
Thick eyebrow
Blepharophimosis
Upslanted palpebral fissure
Epicanthus
Disease(s) Associated with SHH
holoprosencephaly
holoprosencephaly 3
polydactyly
solitary median maxillary central incisor

Mouse Phenotypes
abnormal craniofacial morphology
abnormal craniofacial bone morphology
abnormal cranium morphology
abnormal basioccipital bone morphology
abnormal styloid process morphology
abnormal neurocranium morphology
abnormal frontal bone morphology
abnormal exoccipital bone morphology
absent supraoccipital bone
abnormal parietal bone morphology
temporal bone squamous part hypoplasia
abnormal viscerocranium morphology
absent alveolar process
abnormal dental arch morphology
abnormal odontoblast morphology
abnormal incisor morphology
abnormal lower incisor morphology
small incisors
abnormal molar cusp morphology
small molars
abnormal tooth development
abnormal ameloblast morphology
absent enamel cord
arrest of tooth development
growth retardation of incisors
growth retardation of molars
abnormal dentin morphology
abnormal enamel morphology
malocclusion
small mandibular coronoid process
abnormal maxilla morphology
abnormal maxillary shelf morphology
decreased maxillary shelf size
abnormal premaxilla morphology
abnormal nasal bone morphology
absent palatine bone horizontal plate
ectopic cranial bone
abnormal middle ear ossicle morphology
gonial bone hypoplasia
abnormal malleus manubrium morphology
abnormal nasal pit morphology
abnormal palatal shelf fusion at midline
palatal shelves fail to meet at midline
persistence of medial edge epithelium during palatal shelf fusion
palatal shelf hypoplasia
abnormal upper lip morphology
abnormal palatal rugae morphology
decreased palatal rugae number
cleft secondary palate
cleft palate
Availability Mouse Genotype
Shhtm1Chg/Shhtm1Chg
Shhtm3(cre)Chg/Shhtm3(cre)Chg
Tg(KRT14-Shh)#Cobm/0
Shhtm2Chg/Shh+
Edil3Tg(Sox2-cre)1Amc/Edil3+  (conditional)
Shhtm1Amc/Shhtm2Amc
Tg(KRT14-cre)1Amc/0  (conditional)
Shhtm1Amc/Shhtm2Amc
Tg(Thy1-cre)703Vaw/?  (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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Send questions and comments to User Support. 		last database update
04/30/2024
MGI 6.23 		The Jackson Laboratory