C57BL/6N-A^tm1Brd Psph^{tm1a(EUCOMM)Hmgu}/WtsiPh

Status	Available to order
EMMA ID	EM:09165
International strain name	C57BL/6N-A^tm1Brd Psph^{tm1a(EUCOMM)Hmgu}/WtsiPh
Alternative name	HEPD0722_2_C10
Strain type	Targeted Mutant Strains
Allele/Transgene symbol	Psph^{tm1a(EUCOMM)Hmgu}
Gene/Transgene symbol	Psph
Disclaimer	Please note that for EUCOMM and KOMP-CSD mice supplied to the scientific community by INFRAFRONTIER/EMMA: 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. 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. No check for determining the copy number of the targeting construct in ES cells obtained from EUCOMM/KOMP is done by INFRAFRONTIER/EMMA. 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 affiliation	Wellcome Trust Sanger Institute
Genetic information	This mouse line originates from EUCOMM ES clone HEPD0722_2_C10. For further details on the construction of this clone see the page at the IMPC portal.
Phenotypic information	Potential phenotyping data in the IMPC portal
References	None available

Information from EMMA

Archiving centre	Institute of Molecular Genetics, Prague, Czech Republic

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

3-phosphoserine phosphatase deficiency, infantile/juvenile form / Orphanet_79350

IMPC phenotypes (allele matching)

preweaning lethality, complete penetrance / IMPC

IMPC phenotypes (gene matching)

abnormal heart morphology / IMPC
small adrenal glands / IMPC
preweaning lethality, complete penetrance / IMPC
abnormal craniofacial morphology / IMPC
abnormal embryo size / IMPC
thrombocytopenia / IMPC
anophthalmia / IMPC
pale yolk sac / IMPC
decreased circulating triglyceride level / IMPC
cardiovascular system phenotype / IMPC
microphthalmia / IMPC
pallor / IMPC
abnormal eye morphology / IMPC
edema / IMPC
increased heart rate variability / IMPC
pale placenta / IMPC

MGI phenotypes (allele matching)

abnormal sphenoid bone morphology / MGI
abnormal vertebral body morphology / MGI
rib fusion / MGI
abnormal interatrial septum morphology / MGI
double outlet right ventricle / MGI
increased rib number / MGI
abnormal femur morphology / MGI
oligodactyly / MGI
abnormal salivary gland morphology / MGI
absent salivary gland / MGI
small salivary gland / MGI
abnormal pineal gland morphology / MGI
abnormal thyroid gland morphology / MGI
spleen hypoplasia / MGI
abnormal thymus morphology / MGI
athymia / MGI
abnormal forebrain morphology / MGI
abnormal olfactory bulb morphology / MGI
abnormal choroid plexus morphology / MGI
abnormal hindbrain morphology / MGI
abnormal midbrain morphology / MGI
small superior cervical ganglion / MGI
absent trochlear nerve / MGI
abnormal lens morphology / MGI
epithelioid cysts / MGI
abnormal outer ear morphology / MGI
abnormal brain commissure morphology / MGI
abnormal nasal cavity morphology / MGI
abnormal nasal septum morphology / MGI
abnormal vomeronasal organ morphology / MGI
abnormal larynx morphology / MGI
abnormal semicircular canal morphology / MGI
persistent truncus arteriosis / MGI
abnormal posterior semicircular canal morphology / MGI
abnormal bile duct morphology / MGI
small kidney / MGI
aphakia / MGI
intestinal/bowel diverticulum / MGI
aorta coarctation / MGI
absent olfactory bulb / MGI
abnormal eye muscle morphology / MGI
abnormal Wolffian duct morphology / MGI
abnormal adenohypophysis morphology / MGI
abnormal neurohypophysis morphology / MGI
fetal growth retardation / MGI
abnormal optic stalk morphology / MGI
abnormal optic cup morphology / MGI
abnormal pelvic girdle bone morphology / MGI
absent maxilla / MGI
fusion of vertebral bodies / MGI
fusion of vertebral arches / MGI
absent stapedial artery / MGI
abnormal middle ear ossicle morphology / MGI
holoprosencephaly / MGI
abnormal olfactory nerve morphology / MGI
abnormal external auditory canal morphology / MGI
abnormal inferior vena cava morphology / MGI
thin cerebral cortex / MGI
abnormal brain internal capsule morphology / MGI
absent brain internal capsule / MGI
thoracoschisis / MGI
abnormal spinal cord central canal morphology / MGI
absent external auditory canal / MGI
absent optic chiasm / MGI
tongue hypoplasia / MGI
absent tongue / MGI
perimembraneous ventricular septal defect / MGI
muscular ventricular septal defect / MGI
herniated liver / MGI
absent pineal gland / MGI
absent vomeronasal organ / MGI
abnormal oral cavity morphology / MGI
absent olfactory nerve / MGI
absent hypoglossal nerve / MGI
abnormal hypoglossal nerve topology / MGI
absent segment of posterior cerebral artery / MGI
ductus venosus stenosis / MGI
subcutaneous edema / MGI
absent abducens nerve / MGI
absent posterior commissure / MGI
absent celiac artery / MGI
abnormal vitelline vein connection / MGI
trigeminal neuroma / MGI
abnormal ductus venosus valve topology / MGI
absent neurohypophysis / MGI
abnormal facial nerve topology / MGI
absent eye muscles / MGI
fragmented Meckel's cartilage / MGI
short Meckel's cartilage / MGI
basal brain tissue herniation / MGI
abnormal thymus topology / MGI
intraembryonal intestine elongation / MGI
abnormal dorsal root ganglion topology / MGI
abnormal infrahyoid muscle connection / MGI
absent connection between subcutaneous lymph vessels and lymph sac / MGI
blood in lymph vessels / MGI
abnormal pulmonary artery origin / MGI
absent portal vein segment / MGI
abnormal parasellar internal carotid artery branch morphology / MGI
abnormal vertebral artery origin / MGI
anastomosis between middle cerebral arteries / MGI
embryo cyst / MGI
heterochrony / MGI
abnormal duodenum topology / MGI

MGI phenotypes (gene matching)

abnormal sphenoid bone morphology / MGI
abnormal vertebral body morphology / MGI
rib fusion / MGI
abnormal interatrial septum morphology / MGI
double outlet right ventricle / MGI
increased rib number / MGI
abnormal femur morphology / MGI
oligodactyly / MGI
abnormal salivary gland morphology / MGI
absent salivary gland / MGI
small salivary gland / MGI
abnormal pineal gland morphology / MGI
abnormal thyroid gland morphology / MGI
spleen hypoplasia / MGI
abnormal thymus morphology / MGI
athymia / MGI
abnormal forebrain morphology / MGI
abnormal olfactory bulb morphology / MGI
abnormal choroid plexus morphology / MGI
abnormal hindbrain morphology / MGI
abnormal midbrain morphology / MGI
small superior cervical ganglion / MGI
absent trochlear nerve / MGI
abnormal lens morphology / MGI
epithelioid cysts / MGI
abnormal outer ear morphology / MGI
abnormal brain commissure morphology / MGI
abnormal nasal cavity morphology / MGI
abnormal nasal septum morphology / MGI
abnormal vomeronasal organ morphology / MGI
abnormal larynx morphology / MGI
abnormal semicircular canal morphology / MGI
persistent truncus arteriosis / MGI
abnormal posterior semicircular canal morphology / MGI
abnormal bile duct morphology / MGI
small kidney / MGI
aphakia / MGI
intestinal/bowel diverticulum / MGI
aorta coarctation / MGI
absent olfactory bulb / MGI
abnormal eye muscle morphology / MGI
abnormal Wolffian duct morphology / MGI
abnormal adenohypophysis morphology / MGI
abnormal neurohypophysis morphology / MGI
fetal growth retardation / MGI
abnormal optic stalk morphology / MGI
abnormal optic cup morphology / MGI
abnormal pelvic girdle bone morphology / MGI
absent maxilla / MGI
fusion of vertebral bodies / MGI
fusion of vertebral arches / MGI
absent stapedial artery / MGI
abnormal middle ear ossicle morphology / MGI
holoprosencephaly / MGI
abnormal olfactory nerve morphology / MGI
abnormal external auditory canal morphology / MGI
abnormal inferior vena cava morphology / MGI
thin cerebral cortex / MGI
abnormal brain internal capsule morphology / MGI
absent brain internal capsule / MGI
thoracoschisis / MGI
abnormal spinal cord central canal morphology / MGI
absent external auditory canal / MGI
absent optic chiasm / MGI
tongue hypoplasia / MGI
absent tongue / MGI
perimembraneous ventricular septal defect / MGI
muscular ventricular septal defect / MGI
herniated liver / MGI
umbilical vein stenosis / MGI
absent pineal gland / MGI
absent vomeronasal organ / MGI
abnormal oral cavity morphology / MGI
absent olfactory nerve / MGI
absent hypoglossal nerve / MGI
abnormal hypoglossal nerve topology / MGI
absent segment of posterior cerebral artery / MGI
subcutaneous edema / MGI
absent abducens nerve / MGI
absent posterior commissure / MGI
absent celiac artery / MGI
abnormal vitelline vein connection / MGI
trigeminal neuroma / MGI
abnormal ductus venosus valve topology / MGI
absent neurohypophysis / MGI
abnormal facial nerve topology / MGI
absent eye muscles / MGI
fragmented Meckel's cartilage / MGI
short Meckel's cartilage / MGI
basal brain tissue herniation / MGI
abnormal thymus topology / MGI
intraembryonal intestine elongation / MGI
abnormal dorsal root ganglion topology / MGI
abnormal infrahyoid muscle connection / MGI
absent connection between subcutaneous lymph vessels and lymph sac / MGI
blood in lymph vessels / MGI
abnormal pulmonary artery origin / MGI
absent portal vein segment / MGI
abnormal parasellar internal carotid artery branch morphology / MGI
abnormal vertebral artery origin / MGI
anastomosis between middle cerebral arteries / MGI
embryo cyst / MGI
heterochrony / MGI
abnormal duodenum topology / MGI
persistent trigeminal artery / MGI

Information on how we integrate external resources can be found here

Order

Availabilities

Requesting frozen sperm or embryos is generally advisable wherever possible, in order to minimise the shipment of live mice.

Frozen sperm. Delivered in 4 weeks (after paperwork in place). €1740^*
Rederivation of mice from frozen stock, delivery time available upon request . €3880^*
LacZ tagged null allele (tm1b allele), service fee and delivery time available upon request
Conditional ready allele (tm1c allele), service fee and delivery time available upon request
Reporterless null allele (tm1d allele), service fee and delivery time available upon request

Due to the dynamic nature of our processes strain availability may change at short notice. The local repository manager will advise you in these circumstances.

^* In addition users have to cover all the shipping costs (including the cost for returning dry-shippers, where applicable).

More details on pricing and delivery times

Practical information

Genotyping protocol

Example health report
(Current health report will be provided later)

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.

EMMA conditions
Legally binding conditions for the transfer

Other EMMA strains

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C57BL/6N-Atm1Brd Psphtm1a(EUCOMM)Hmgu/WtsiPh