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

Status

Available to order

EMMA IDEM:09165
International strain nameC57BL/6N-Atm1Brd Psphtm1a(EUCOMM)Hmgu/WtsiPh
Alternative nameHEPD0722_2_C10
Strain typeTargeted Mutant Strains
Allele/Transgene symbolPsphtm1a(EUCOMM)Hmgu,
Gene/Transgene symbolPsph
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 HEPD0722_2_C10. For further details on the construction of this clone see the page at the IMPC portal.
Phenotypic informationPotential phenotyping data in the IMPC portal
ReferencesNone available

Information from EMMA

Archiving centreInstitute 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
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

Order

Availabilities

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

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

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