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Symbol
Name
ID
Sh3pxd2b
SH3 and PX domains 2B
MGI:2442062
Phenotype annotations related to craniofacial
Darker colors indicate more annotations
Human Phenotypes
Flat occiput
Brachycephaly
Micrognathia
Mandibular prognathia
Enlarged cisterna magna
Delayed cranial suture closure
Wormian bones
Wide anterior fontanel
Coarse facial features
Full cheeks
Broad forehead
High forehead
Prominent forehead
Broad alveolar ridges
Short philtrum
Thin upper lip vermilion
Thick vermilion border
Gingival overgrowth
High palate
Wide mouth
Delayed eruption of teeth
Premature loss of teeth
Dental malocclusion
Anteverted nares
Broad nasal tip
Depressed nasal bridge
Wide nasal bridge
Downslanted palpebral fissures
Disease(s) Associated with SH3PXD2B
Frank-Ter Haar syndrome

Mouse Phenotypes
abnormal craniofacial morphology
Wormian bones
abnormal sagittal suture morphology
abnormal basicranium morphology
decreased cranium height
abnormal neurocranium morphology
large anterior fontanelle
abnormal tooth morphology
short mandible
short maxilla
micrognathia
short nasal bone
domed cranium
short snout
Availability Mouse Genotype
Sh3pxd2bGt(GST_1527_E5)Lex/Sh3pxd2bGt(GST_1527_E5)Lex
Sh3pxd2bnee/Sh3pxd2bnee
Sh3pxd2btm1.1Arte/Sh3pxd2btm1.1Arte

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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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory