STOCK Tbcepmn +/+ Gli3Xt/PasOrl

Status

Available to order

EMMA IDEM:01164
International strain nameSTOCK Tbcepmn +/+ Gli3Xt/PasOrl
Alternative nameXtP-Pasteur
Strain typeSpontaneous
Allele/Transgene symbolTbcepmn,
Gene/Transgene symbolTbce

Information from provider

ProviderJean-Louis Guénet
Provider affiliationInstitut Pasteur
Genetic informationThe Tbcepmn mutation has been identified as T to G substitution, resulting in a Trp524Gly amino acid substitution. Northern blot analysis detected no difference in transcript levels between mutant and wild-type mice. Confirmation that the mutation underlying pmn was due to a defect in Tbce was obtained through complementation with a line expressing a Tbce transgene. The Gli3Xt and Tbcepmn alleles are in a balanced stock. Frozen embryos have been produced with males heterozygous for the two mutations and wild-type 129 females.
Phenotypic informationXt/Xt homozygous die in utero, Xt/+ have an extra digit; pmn/pmn show progressive paralysis of hindlimb and die around 4-5 weeks.
Breeding historyHeterozygous x heterozygous. The Gli3Xt and Tbcepmn alleles are on the different pair of chromosome 13 (balanced stock).
References
  • A missense mutation in Tbce causes progressive motor neuronopathy in mice.;Martin Natalia, Jaubert Jean, Gounon Pierre, Salido Eduardo, Haase Georg, Szatanik Marek, Guénet Jean-Louis, ;2002;Nature genetics;32;443-7; 12389029

Information from EMMA

Archiving centreInstitut de Transgenose, INTRAGENE, Orléans, France

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

MGI phenotypes (allele matching)
  • polydactyly / MGI
  • abnormal digit development / MGI
  • abnormal skeleton morphology / MGI
  • abnormal inferior colliculus morphology / MGI
  • abnormal hindbrain morphology / MGI
  • abnormal cerebellum morphology / MGI
  • abnormal cerebellar foliation / MGI
  • abnormal cerebellar Purkinje cell layer / MGI
  • abnormal midbrain morphology / MGI
  • abnormal superior colliculus morphology / MGI
  • abnormal rhombomere morphology / MGI
  • abnormal cerebral aqueduct morphology / MGI
  • enlarged tectum / MGI
  • abnormal digit morphology / MGI
  • absent tibia / MGI
  • abnormal phalanx morphology / MGI
  • abnormal otic capsule morphology / MGI
  • abnormal neurocranium morphology / MGI
  • abnormal sternum morphology / MGI
  • abnormal pericardium morphology / MGI
  • abnormal cranium morphology / MGI
  • abnormal maxilla morphology / MGI
  • absent radius / MGI
  • abnormal hindlimb morphology / MGI
  • syndactyly / MGI
  • abnormal forebrain morphology / MGI
  • abnormal medulla oblongata morphology / MGI
  • wavy neural tube / MGI
  • abnormal telencephalon development / MGI
  • abnormal cranial ganglia morphology / MGI
  • abnormal epidermal layer morphology / MGI
  • abnormal eye development / MGI
  • anophthalmia / MGI
  • microphthalmia / MGI
  • abnormal retina morphology / MGI
  • thick apical ectodermal ridge / MGI
  • skin edema / MGI
  • hemorrhage / MGI
  • abnormal axial skeleton morphology / MGI
  • abnormal limb bone morphology / MGI
  • abnormal kidney morphology / MGI
  • abnormal neural tube morphology / MGI
  • abnormal brain morphology / MGI
  • abnormal nose morphology / MGI
  • abnormal nasal cavity morphology / MGI
  • abnormal nasal septum morphology / MGI
  • delayed neural tube closure / MGI
  • abnormal pharyngeal arch morphology / MGI
  • omphalocele / MGI
  • abnormal superior semicircular canal morphology / MGI
  • abnormal metatarsal bone morphology / MGI
  • abnormal metacarpal bone morphology / MGI
  • short femur / MGI
  • absent lateral semicircular canal / MGI
  • abnormal optic vesicle formation / MGI
  • absent olfactory bulb / MGI
  • abnormal long bone morphology / MGI
  • abnormal ear development / MGI
  • abnormal spine curvature / MGI
  • abnormal optic stalk morphology / MGI
  • abnormal optic cup morphology / MGI
  • bowed fibula / MGI
  • abnormal orbitosphenoid bone morphology / MGI
  • abnormal pubis morphology / MGI
  • fusion of vertebral arches / MGI
  • sacral vertebral fusion / MGI
  • abnormal anterior cardinal vein morphology / MGI
  • eyelids fail to open / MGI
  • abnormal olfactory nerve morphology / MGI
  • abnormal olfactory tract morphology / MGI
  • abnormal limb bud morphology / MGI
  • abnormal otic vesicle development / MGI
  • abnormal nasal placode morphology / MGI
  • enlarged first pharyngeal arch / MGI
  • abnormal cerebral hemisphere morphology / MGI
  • abnormal olfactory epithelium morphology / MGI
  • abnormal interfrontal bone morphology / MGI
  • fused carpal bones / MGI
  • fused tarsal bones / MGI
  • abnormal optic chiasm morphology / MGI
  • prenatal lethality, incomplete penetrance / MGI
  • embryonic lethality during organogenesis, incomplete penetrance / MGI
  • ectopic adrenal gland / MGI
  • ectopic ovary / MGI
  • increased total retina thickness / MGI
  • acoria / MGI
  • absent pineal gland / MGI
  • Harderian gland hyperplasia / MGI
  • decreased nipple number / MGI
  • abnormal forehead morphology / MGI
  • short nasal septum / MGI
  • thick nasal septum / MGI
  • abnormal choroid plexus morphology / MGI
  • abnormal lateral ventricle morphology / MGI
  • incomplete rostral neuropore closure / MGI
  • abnormal folding of telencephalic vesicles / MGI
  • nervous system phenotype / MGI
  • progressive muscle weakness / MGI
  • paralysis / MGI
  • motor neuron degeneration / MGI
  • abnormal facial nerve morphology / MGI
  • abnormal phrenic nerve morphology / MGI
  • respiratory failure / MGI
  • premature death / MGI
  • muscular atrophy / MGI
  • axon degeneration / MGI

Literature references

  • A missense mutation in Tbce causes progressive motor neuronopathy in mice.;Martin Natalia, Jaubert Jean, Gounon Pierre, Salido Eduardo, Haase Georg, Szatanik Marek, Guénet Jean-Louis, ;2002;Nature genetics;32;443-7; 12389029

Order

Availabilities

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

  • Frozen embryos. Delivered in 4 weeks (after paperwork in place). €1740*
  • Rederivation of mice from frozen stock, delivery time available upon request . €3880*

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)
For this strain no provider MTA is needed. Distribution is based on the EMMA conditions only.

EMMA conditions
Legally binding conditions for the transfer

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