- 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
STOCK Tbcepmn +/+ Gli3Xt/PasOrl
Status | Available to order |
EMMA ID | EM:01164 |
International strain name | STOCK Tbcepmn +/+ Gli3Xt/PasOrl |
Alternative name | XtP-Pasteur |
Strain type | Spontaneous |
Allele/Transgene symbol | Tbcepmn, |
Gene/Transgene symbol | Tbce |
Information from provider
Provider | Jean-Louis Guénet |
Provider affiliation | Institut Pasteur |
Genetic information | The 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 information | Xt/Xt homozygous die in utero, Xt/+ have an extra digit; pmn/pmn show progressive paralysis of hindlimb and die around 4-5 weeks. |
Breeding history | Heterozygous x heterozygous. The Gli3Xt and Tbcepmn alleles are on the different pair of chromosome 13 (balanced stock). |
References |
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Information from EMMA
Archiving centre | Institut de Transgenose, INTRAGENE, Orléans, France |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Greig cephalopolysyndactyly syndrome / Orphanet_380
- Tibial hemimelia / Orphanet_93322
- Pallister-Hall syndrome / Orphanet_672
- Postaxial polydactyly type A / Orphanet_93334
- Postaxial polydactyly type B / Orphanet_93335
- Polysyndactyly / Orphanet_93338
- Acrocallosal syndrome / Orphanet_36
- Sanjad-Sakati syndrome / Orphanet_2323
- Autosomal recessive Kenny-Caffey syndrome / Orphanet_93324
- Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome / Orphanet_496756
MGI phenotypes (allele matching)
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
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