Phenotypes Associated with This Genotype

Genotype
MGI:5757705

• Allelic Composition: Sh3pxd2a^{tm1b(EUCOMM)Wtsi}/Sh3pxd2a^{tm1b(EUCOMM)Wtsi}
• Genetic Background: C57BL/6N-Sh3pxd2a^{tm1b(EUCOMM)Wtsi}/Wtsi
• Cell Lines: EPD0656_1_B12

Data Sources

IMPC Data for Sh3pxd2a

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

cardiovascular system

abnormal artery morphology ( J:239583 )

DMDD

persistent right dorsal aorta ( J:239583 )

DMDD

persistent right 6th pharyngeal arch artery ( J:239583 )

DMDD

persistent trigeminal artery ( J:239583 )

DMDD

absent canalicular internal carotid artery segment ( J:239583 )

DMDD

absent parasellar internal carotid artery ( J:239583 )

DMDD

absent celiac artery ( J:239583 )

DMDD

absent segment of posterior cerebral artery ( J:239583 )

DMDD

abnormal vertebral artery origin ( J:239583 )

DMDD

inverse situs of great intrathoracic arteries ( J:239583 )

DMDD

abnormal basilar artery morphology ( J:239583 )

DMDD

cerebral arteriovenous malformation ( J:239583 )

DMDD

abnormal stapedial artery topology ( J:239583 )

DMDD

absent stapedial artery ( J:239583 )

DMDD

abnormal liver vasculature morphology ( J:239583 )

DMDD

dilated liver sinusoidal space ( J:239583 )

DMDD

abnormal vitelline vein topology ( J:239583 )

DMDD

abnormal vascular plexus formation ( J:239583 )

DMDD

symmetric azygos veins ( J:239583 )

DMDD

abnormal ductus venosus valve topology ( J:239583 )

DMDD

absent ductus venosus valve ( J:239583 )

DMDD

abnormal hepatic vein morphology ( J:239583 )

DMDD

abnormal inferior vena cava morphology ( J:239583 )

DMDD

dual inferior vena cava ( J:239583 )

DMDD

abnormal left vena cava superior connection ( J:239583 )

DMDD

abnormal pectinate muscle morphology ( J:239583 )

DMDD

persistent truncus arteriosus ( J:239583 )

DMDD

abnormal atrioventricular cushion morphology ( J:239583 )

DMDD

double outlet right ventricle ( J:239583 )

DMDD

double outlet right ventricle with atrioventricular septal defect ( J:239583 )

DMDD

transposition of great arteries ( J:239583 )

DMDD

double inlet heart left ventricle ( J:239583 )

DMDD

abnormal interatrial septum morphology ( J:239583 )

DMDD

atrial septal defect ( J:239583 )

DMDD

ostium primum atrial septal defect ( J:239583 )

DMDD

abnormal heart position or orientation ( J:239583 )

DMDD

perimembraneous ventricular septal defect ( J:239583 )

DMDD

muscular ventricular septal defect ( J:239583 )

DMDD

abnormal semilunar valve morphology ( J:239583 )

DMDD

abnormal aortic valve cusp morphology ( J:239583 )

DMDD

bicuspid aortic valve ( J:239583 )

DMDD

abnormal pulmonary valve cusp morphology ( J:239583 )

DMDD

bicuspid pulmonary valve ( J:239583 )

DMDD

craniofacial

persistent right 6th pharyngeal arch artery ( J:239583 )

DMDD

basisphenoid bone foramen ( J:239583 )

DMDD

absent styloid process ( J:239583 )

DMDD

fragmented Meckel's cartilage ( J:239583 )

DMDD

abnormal occipital bone morphology ( J:239583 )

DMDD

abnormal basioccipital bone morphology ( J:239583 )

DMDD

absent hypoglossal canal ( J:239583 )

DMDD

fusion of atlas and occipital bones ( J:239583 )

DMDD

abnormal hyoid bone body morphology ( J:239583 )

DMDD

abnormal oral cavity morphology ( J:239583 )

DMDD

abnormally deep median sulcus of tongue ( J:239583 )

DMDD

short tongue ( J:239583 )

DMDD

abnormal nasal cavity morphology ( J:239583 )

DMDD

abnormal nasal septum morphology ( J:239583 )

DMDD

abnormal vomeronasal organ morphology ( J:239583 )

DMDD

short snout ( J:239583 )

DMDD

digestive/alimentary system

abnormally deep median sulcus of tongue ( J:239583 )

DMDD

short tongue ( J:239583 )

DMDD

absent sublingual gland ( J:239583 )

DMDD

embryo

persistent right 6th pharyngeal arch artery ( J:239583 )

DMDD

abnormal vitelline vein topology ( J:239583 )

DMDD

abnormal Mullerian duct morphology ( J:239583 )

DMDD

abnormal Mullerian duct topology ( J:239583 )

DMDD

abnormal Wolffian duct connection ( J:239583 )

DMDD

embryo cyst ( J:239583 )

DMDD

endocrine/exocrine glands

absent sublingual gland ( J:239583 )

DMDD

dilated bile duct ( J:239583 )

DMDD

abnormal adenohypophysis morphology ( J:239583 )

DMDD

abnormal pineal gland morphology ( J:239583 )

DMDD

abnormal thymus topology ( J:239583 )

DMDD

small thyroid gland ( J:239583 )

DMDD

abnormal ovary tissue architecture ( J:239583 )

DMDD

abnormal testis morphology ( J:239583 )

DMDD

growth/size/body

abnormal hyoid bone body morphology ( J:239583 )

DMDD

abnormal oral cavity morphology ( J:239583 )

DMDD

abnormally deep median sulcus of tongue ( J:239583 )

DMDD

short tongue ( J:239583 )

DMDD

abnormal nasal cavity morphology ( J:239583 )

DMDD

abnormal nasal septum morphology ( J:239583 )

DMDD

abnormal vomeronasal organ morphology ( J:239583 )

DMDD

short snout ( J:239583 )

DMDD

embryo cyst ( J:239583 )

DMDD

thoracoschisis ( J:239583 )

DMDD

fetal growth retardation ( J:239583 )

DMDD

heterochrony ( J:239583 )

DMDD

hearing/vestibular/ear

abnormal stapedial artery topology ( J:239583 )

DMDD

absent stapedial artery ( J:239583 )

DMDD

hematopoietic system

abnormal thymus topology ( J:239583 )

DMDD

homeostasis/metabolism

retropharyngeal edema ( J:239583 )

DMDD

retropleural edema ( J:239583 )

DMDD

subcutaneous edema ( J:239583 )

DMDD

immune system

abnormal thymus topology ( J:239583 )

DMDD

abnormal lymphatic vessel morphology ( J:239583 )

DMDD

absent connection between subcutaneous lymph vessels and lymph sac ( J:239583 )

DMDD

blood in lymph vessels ( J:239583 )

DMDD

integument

subcutaneous edema ( J:239583 )

DMDD

liver/biliary system

dilated bile duct ( J:239583 )

DMDD

abnormal liver morphology ( J:239583 )

DMDD

abnormal liver vasculature morphology ( J:239583 )

DMDD

dilated liver sinusoidal space ( J:239583 )

DMDD

liver hypoplasia ( J:239583 )

DMDD

herniated liver ( J:239583 )

DMDD

mortality/aging

preweaning lethality, complete penetrance ( J:211773 )

IMPC - WTSI

muscle

abnormal muscle morphology ( J:239583 )

DMDD

abnormal pectinate muscle morphology ( J:239583 )

DMDD

abnormal eye muscle morphology ( J:239583 )

DMDD

abnormal eye muscle topology ( J:239583 )

DMDD

diaphragmatic hernia ( J:239583 )

DMDD

abnormal infrahyoid muscle connection ( J:239583 )

DMDD

abnormal digastric muscle connection ( J:239583 )

DMDD

nervous system

abnormal vomeronasal organ morphology ( J:239583 )

DMDD

small superior cervical ganglion ( J:239583 )

DMDD

reduced sympathetic cervical ganglion size ( J:239583 )

DMDD

small prevertebral sympathetic ganglia ( J:239583 )

DMDD

abnormal brain morphology ( J:239583 )

DMDD

absent segment of posterior cerebral artery ( J:239583 )

DMDD

abnormal basilar artery morphology ( J:239583 )

DMDD

cerebral arteriovenous malformation ( J:239583 )

DMDD

enlarged fourth ventricle ( J:239583 )

DMDD

abnormal forebrain morphology ( J:239583 )

DMDD

abnormal adenohypophysis morphology ( J:239583 )

DMDD

abnormal pineal gland morphology ( J:239583 )

DMDD

enlarged third ventricle ( J:239583 )

DMDD

abnormal olfactory bulb position ( J:239583 )

DMDD

abnormal hypoglossal nerve topology ( J:239583 )

DMDD

absent hypoglossal nerve ( J:239583 )

DMDD

fused dorsal root ganglion ( J:239583 )

DMDD

renal/urinary system

abnormal kidney morphology ( J:239583 )

DMDD

pelvic kidney ( J:239583 )

DMDD

bifid ureter ( J:239583 )

DMDD

double ureter ( J:239583 )

DMDD

urinary bladder hypoplasia ( J:239583 )

DMDD

reproductive system

abnormal ovary tissue architecture ( J:239583 )

DMDD

abnormal testis morphology ( J:239583 )

DMDD

respiratory system

abnormal nasal cavity morphology ( J:239583 )

DMDD

abnormal nasal septum morphology ( J:239583 )

DMDD

abnormal vomeronasal organ morphology ( J:239583 )

DMDD

abnormal infrahyoid muscle connection ( J:239583 )

DMDD

abnormal digastric muscle connection ( J:239583 )

DMDD

abnormal larynx morphology ( J:239583 )

DMDD

abnormal lung position or orientation ( J:239583 )

DMDD

abnormal right lung morphology ( J:239583 )

DMDD

skeleton

basisphenoid bone foramen ( J:239583 )

DMDD

absent styloid process ( J:239583 )

DMDD

fragmented Meckel's cartilage ( J:239583 )

DMDD

abnormal occipital bone morphology ( J:239583 )

DMDD

abnormal basioccipital bone morphology ( J:239583 )

DMDD

absent hypoglossal canal ( J:239583 )

DMDD

fusion of atlas and occipital bones ( J:239583 )

DMDD

abnormal hyoid bone body morphology ( J:239583 )

DMDD

abnormal cervical rib ( J:239583 )

DMDD

fusion of axis and occipital bones ( J:239583 )

DMDD

abnormal vertebral arch morphology ( J:239583 )

DMDD

fusion of vertebral arches ( J:239583 )

DMDD

abnormal vertebral body morphology ( J:239583 )

DMDD

vision/eye

abnormal eye muscle morphology ( J:239583 )

DMDD

abnormal eye muscle topology ( J:239583 )

DMDD

abnormal optic cup morphology ( J:239583 )

DMDD