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Symbol
Name
ID 		Sh3pxd2b
SH3 and PX domains 2B
MGI:2442062
Phenotype annotations related to skeleton
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
Bowing of the long bones
Clinodactyly of the 5th finger
Camptodactyly of finger
Short phalanx of finger
Brachydactyly
Metatarsus adductus
Flared metaphysis
Abnormal metacarpal morphology
Short palm
Genu recurvatum
Camptodactyly
Joint stiffness
Avascular necrosis
Short long bone
Prominent coccyx
Hip dysplasia
Broad clavicles
Pectus excavatum
Kyphosis
Kyphoscoliosis
Scoliosis
Anterior concavity of thoracic vertebrae
Beaking of vertebral bodies
Osteopenia
Osteoporosis
Cortical irregularity
Osteolysis
Disease(s) Associated with SH3PXD2B
Frank-Ter Haar syndrome

Mouse Phenotypes
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 femur
short tibia
decreased length of long bones
abnormal xiphoid process morphology
abnormal iliac crest morphology
abnormal ilium wing morphology
kyphosis
lordosis
decreased bone mineral density
abnormal skeleton development
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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Funding Information
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Send questions and comments to User Support. 		last database update
04/16/2024
MGI 6.23 		The Jackson Laboratory