C57BL/6N-Sh3pxd2atm1b(EUCOMM)Wtsi/WtsiCnbc

Status

Available to order

EMMA IDEM:14517
International strain nameC57BL/6N-Sh3pxd2atm1b(EUCOMM)Wtsi/WtsiCnbc
Alternative nameEPD0656_1_B12
Strain typeTargeted Mutant Strains
Allele/Transgene symbolSh3pxd2atm1b(EUCOMM)Wtsi
Gene/Transgene symbolSh3pxd2a
DisclaimerPlease note that for EUCOMM and KOMP-CSD mice supplied to the scientific community by INFRAFRONTIER/EMMA:
  1. We can not guarantee a null mutation for Knock-out first alleles (tm1a alleles, see http://www.mousephenotype.org/about-ikmc/targeting-strategies) as the critical exon has not been deleted.
  2. That the structure of the targeted mutation in the ES cells obtained from EUCOMM/KOMP to generate EUCOMM/KOMP mice is not verified by INFRAFRONTIER/EMMA. It is recommended that the recipient confirms the mutation structure.
  3. No check for determining the copy number of the targeting construct in ES cells obtained from EUCOMM/KOMP is done by INFRAFRONTIER/EMMA.
  4. The level of quality control before mice are released is to confirm the individual mouse genotype by short range PCR.

Information from provider

Provider Wellcome Trust Sanger Institute
Provider affiliationWellcome Trust Sanger Institute
Genetic informationThis mouse line originates from EUCOMM ES clone EPD0656_1_B12. For further details on the construction of this clone see the page at the IMPC portal. The critical exon(s) were flanked by loxP sites, and subsequent cre expression excised this critical sequence resulting in a knockout reporter allele using a cell permeable HTN-Cre as described in doi:10.1007/s11248-013-9764-x. Click here for more information on EUCOMM final vectors.
Phenotypic informationPotential phenotyping data in the IMPC portal
ReferencesNone available

Information from EMMA

Archiving centreCNB-CSIC, Centro Nacional de Biotecnologia, Madrid, Spain
Animals used for archivingheterozygous C57BL/6N

Disease and phenotype information

IMPC phenotypes (allele matching)
  • increased circulating alkaline phosphatase level / IMPC
  • preweaning lethality, complete penetrance / IMPC
IMPC phenotypes (gene matching)
  • increased circulating alkaline phosphatase level / IMPC
  • preweaning lethality, complete penetrance / IMPC
MGI phenotypes (allele matching)
  • abnormal basioccipital bone morphology / MGI
  • abnormal vertebral body morphology / MGI
  • abnormal interatrial septum morphology / MGI
  • double outlet right ventricle / MGI
  • abnormal atrioventricular cushion morphology / MGI
  • short snout / MGI
  • abnormal liver morphology / MGI
  • liver hypoplasia / MGI
  • enlarged liver sinusoidal spaces / MGI
  • abnormal pineal gland morphology / MGI
  • abnormal forebrain morphology / MGI
  • fused dorsal root ganglion / MGI
  • small superior cervical ganglion / MGI
  • abnormal testis morphology / MGI
  • abnormal lymphatic vessel morphology / MGI
  • abnormal muscle morphology / MGI
  • abnormal kidney morphology / MGI
  • abnormal brain morphology / MGI
  • abnormal artery morphology / MGI
  • abnormal nasal cavity morphology / MGI
  • abnormal nasal septum morphology / MGI
  • abnormal vomeronasal organ morphology / MGI
  • abnormal larynx morphology / MGI
  • persistent truncus arteriosis / MGI
  • abnormal semilunar valve morphology / MGI
  • small thyroid gland / MGI
  • dilated bile duct / MGI
  • bifid ureter / MGI
  • urinary bladder hypoplasia / MGI
  • abnormal eye muscle morphology / MGI
  • abnormal Mullerian duct morphology / MGI
  • diaphragmatic hernia / MGI
  • transposition of great arteries / MGI
  • abnormal adenohypophysis morphology / MGI
  • fetal growth retardation / MGI
  • abnormal optic cup morphology / MGI
  • basisphenoid bone foramen / MGI
  • abnormal vertebral arch morphology / MGI
  • fusion of vertebral arches / MGI
  • absent stapedial artery / MGI
  • abnormal occipital bone morphology / MGI
  • abnormal inferior vena cava morphology / MGI
  • abnormal heart position or orientation / MGI
  • absent styloid process / MGI
  • enlarged fourth ventricle / MGI
  • enlarged third ventricle / MGI
  • abnormal cervical rib / MGI
  • thoracoschisis / MGI
  • absent sublingual gland / MGI
  • abnormal right lung morphology / MGI
  • abnormal liver vasculature morphology / MGI
  • abnormal hyoid bone body morphology / MGI
  • atrial septal defect / MGI
  • ostium primum atrial septal defect / MGI
  • perimembraneous ventricular septal defect / MGI
  • muscular ventricular septal defect / MGI
  • double inlet heart left ventricle / MGI
  • abnormal hepatic vein morphology / MGI
  • bicuspid aortic valve / MGI
  • abnormal pectinate muscle morphology / MGI
  • bicuspid pulmonary valve / MGI
  • cerebral arteriovenous malformation / MGI
  • persistent right dorsal aorta / MGI
  • abnormal aortic valve cusp morphology / MGI
  • abnormal pulmonary valve cusp morphology / MGI
  • fusion of atlas and occipital bones / MGI
  • abnormal lung position or orientation / MGI
  • herniated liver / MGI
  • pelvic kidney / MGI
  • double ureter / MGI
  • double outlet right ventricle with atrioventricular septal defect / MGI
  • dual inferior vena cava / MGI
  • abnormal basilar artery morphology / MGI
  • abnormal oral cavity morphology / MGI
  • absent hypoglossal canal / MGI
  • absent hypoglossal nerve / MGI
  • abnormal hypoglossal nerve topology / MGI
  • absent segment of posterior cerebral artery / MGI
  • abnormal eye muscle topology / MGI
  • retropharyngeal edema / MGI
  • retropleural edema / MGI
  • subcutaneous edema / MGI
  • abnormal Mullerian duct topology / MGI
  • absent celiac artery / MGI
  • abnormal stapedial artery topology / MGI
  • absent ductus venosus valve / MGI
  • abnormal ductus venosus valve topology / MGI
  • persistent right 6th pharyngeal arch artery / MGI
  • small prevertebral sympathetic ganglia / MGI
  • abnormal vascular plexus formation / MGI
  • abnormal digastric muscle connection / MGI
  • abnormal olfactory bulb position / MGI
  • fragmented Meckel's cartilage / MGI
  • abnormal thymus topology / MGI
  • fusion of axis and occipital bones / MGI
  • abnormally deep median sulcus of tongue / MGI
  • abnormal infrahyoid muscle connection / MGI
  • reduced sympathetic cervical ganglion size / MGI
  • absent connection between subcutaneous lymph vessels and lymph sac / MGI
  • blood in lymph vessels / MGI
  • abnormal left vena cava superior connection / MGI
  • symmetric azygos veins / MGI
  • inverse situs of great intrathoracic arteries / MGI
  • abnormal vitelline vein topology / MGI
  • abnormal vertebral artery origin / MGI
  • absent canalicular internal carotid artery segment / MGI
  • absent parasellar internal carotid artery / MGI
  • abnormal ovary tissue architecture / MGI
  • abnormal Wolffian duct connection / MGI
  • embryo cyst / MGI
  • heterochrony / MGI
  • short tongue / MGI
MGI phenotypes (gene matching)
  • abnormal basioccipital bone morphology / MGI
  • abnormal vertebral body morphology / MGI
  • abnormal interatrial septum morphology / MGI
  • double outlet right ventricle / MGI
  • abnormal atrioventricular cushion morphology / MGI
  • short snout / MGI
  • abnormal liver morphology / MGI
  • liver hypoplasia / MGI
  • enlarged liver sinusoidal spaces / MGI
  • abnormal pineal gland morphology / MGI
  • abnormal forebrain morphology / MGI
  • fused dorsal root ganglion / MGI
  • small superior cervical ganglion / MGI
  • abnormal testis morphology / MGI
  • abnormal lymphatic vessel morphology / MGI
  • premature death / MGI
  • abnormal muscle morphology / MGI
  • abnormal kidney morphology / MGI
  • abnormal brain morphology / MGI
  • abnormal artery morphology / MGI
  • abnormal nasal cavity morphology / MGI
  • abnormal nasal septum morphology / MGI
  • abnormal vomeronasal organ morphology / MGI
  • abnormal larynx morphology / MGI
  • persistent truncus arteriosis / MGI
  • abnormal semilunar valve morphology / MGI
  • small thyroid gland / MGI
  • dilated bile duct / MGI
  • bifid ureter / MGI
  • urinary bladder hypoplasia / MGI
  • abnormal eye muscle morphology / MGI
  • abnormal Mullerian duct morphology / MGI
  • diaphragmatic hernia / MGI
  • transposition of great arteries / MGI
  • abnormal adenohypophysis morphology / MGI
  • fetal growth retardation / MGI
  • abnormal optic cup morphology / MGI
  • basisphenoid bone foramen / MGI
  • abnormal vertebral arch morphology / MGI
  • fusion of vertebral arches / MGI
  • absent stapedial artery / MGI
  • split xiphoid process / MGI
  • abnormal occipital bone morphology / MGI
  • abnormal inferior vena cava morphology / MGI
  • abnormal heart position or orientation / MGI
  • absent styloid process / MGI
  • enlarged fourth ventricle / MGI
  • enlarged third ventricle / MGI
  • abnormal cervical rib / MGI
  • thoracoschisis / MGI
  • absent sublingual gland / MGI
  • absent gastric milk in neonates / MGI
  • abnormal right lung morphology / MGI
  • abnormal liver vasculature morphology / MGI
  • cleft secondary palate / MGI
  • abnormal hyoid bone body morphology / MGI
  • atrial septal defect / MGI
  • ostium primum atrial septal defect / MGI
  • perimembraneous ventricular septal defect / MGI
  • muscular ventricular septal defect / MGI
  • double inlet heart left ventricle / MGI
  • abnormal hepatic vein morphology / MGI
  • bicuspid aortic valve / MGI
  • abnormal pectinate muscle morphology / MGI
  • bicuspid pulmonary valve / MGI
  • cerebral arteriovenous malformation / MGI
  • persistent right dorsal aorta / MGI
  • abnormal aortic valve cusp morphology / MGI
  • abnormal pulmonary valve cusp morphology / MGI
  • fusion of atlas and occipital bones / MGI
  • mortality/aging / MGI
  • abnormal lung position or orientation / MGI
  • herniated liver / MGI
  • neonatal lethality, incomplete penetrance / MGI
  • perinatal lethality, incomplete penetrance / MGI
  • preweaning lethality, incomplete penetrance / MGI
  • pelvic kidney / MGI
  • double ureter / MGI
  • double outlet right ventricle with atrioventricular septal defect / MGI
  • dual inferior vena cava / MGI
  • abnormal basilar artery morphology / MGI
  • abnormal oral cavity morphology / MGI
  • absent hypoglossal canal / MGI
  • absent hypoglossal nerve / MGI
  • abnormal hypoglossal nerve topology / MGI
  • absent segment of posterior cerebral artery / MGI
  • abnormal eye muscle topology / MGI
  • retropharyngeal edema / MGI
  • retropleural edema / MGI
  • subcutaneous edema / MGI
  • abnormal Mullerian duct topology / MGI
  • absent celiac artery / MGI
  • abnormal stapedial artery topology / MGI
  • absent ductus venosus valve / MGI
  • abnormal ductus venosus valve topology / MGI
  • persistent right 6th pharyngeal arch artery / MGI
  • small prevertebral sympathetic ganglia / MGI
  • abnormal vascular plexus formation / MGI
  • abnormal digastric muscle connection / MGI
  • abnormal olfactory bulb position / MGI
  • fragmented Meckel's cartilage / MGI
  • abnormal thymus topology / MGI
  • fusion of axis and occipital bones / MGI
  • abnormally deep median sulcus of tongue / MGI
  • abnormal infrahyoid muscle connection / MGI
  • reduced sympathetic cervical ganglion size / MGI
  • absent connection between subcutaneous lymph vessels and lymph sac / MGI
  • blood in lymph vessels / MGI
  • abnormal left vena cava superior connection / MGI
  • symmetric azygos veins / MGI
  • inverse situs of great intrathoracic arteries / MGI
  • abnormal vitelline vein topology / MGI
  • abnormal vertebral artery origin / MGI
  • absent canalicular internal carotid artery segment / MGI
  • absent parasellar internal carotid artery / MGI
  • abnormal ovary tissue architecture / MGI
  • abnormal Wolffian duct connection / MGI
  • embryo cyst / MGI
  • heterochrony / MGI
  • short tongue / MGI
  • persistent trigeminal artery / MGI

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Practical information

Genotyping protocol

Example health report
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Material Transfer Agreement (MTA)
Distribution of this strain is subject to a provider MTA. Both signing of the MTA and submission of the online EMMA Mutant Request Form are required before material can be shipped.

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