STOCK Tbce^pmn +/+ Gli3^Xt/PasOrl

Status	Available to order
EMMA ID	EM:01164
Citation information	RRID:IMSR_EM:01164 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information.
International strain name	STOCK Tbce^pmn +/+ Gli3^Xt/PasOrl
Alternative name	XtP-Pasteur
Strain type	Spontaneous
Allele/Transgene symbol	Gli3^Xt, Tbce^pmn
Gene/Transgene symbol	Gli3, Tbce

Information from provider

Provider	Jean-Louis Guénet
Provider affiliation	Institut Pasteur
Genetic information	The Tbce^pmn 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 Gli3^Xt and Tbce^pmn 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 Gli3^Xt and Tbce^pmn 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 centre	CNRS-TAAM – Typing and Archiving of Animal Models, 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

IMPC phenotypes (gene matching)

abnormal lens morphology / IMPC
cataract / IMPC
preweaning lethality, complete penetrance / IMPC

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

MGI phenotypes (gene matching)

abnormal ear position / MGI
abnormal otic capsule morphology / MGI
abnormal neurocranium morphology / MGI
absent neurocranium / MGI
abnormal basisphenoid bone morphology / MGI
cleft palate / MGI
abnormal tooth development / MGI
abnormal vertebrae morphology / MGI
abnormal sternum morphology / MGI
abnormal xiphoid process morphology / MGI
abnormal pericardium morphology / MGI
belly spot / MGI
polyphalangy / MGI
abnormal craniofacial morphology / MGI
abnormal cranium morphology / MGI
enlarged cranium / MGI
abnormal maxilla morphology / MGI
abnormal intestine morphology / MGI
abnormal colon morphology / MGI
short limbs / MGI
absent radius / MGI
abnormal hindlimb morphology / MGI
polydactyly / MGI
syndactyly / MGI
synostosis / MGI
interdigital webbing / MGI
abnormal nail morphology / MGI
herniated abdominal wall / MGI
abnormal inferior colliculus morphology / MGI
abnormal forebrain morphology / MGI
abnormal cerebral cortex morphology / MGI
abnormal stratification in cerebral cortex / MGI
abnormal hippocampus morphology / MGI
abnormal choroid plexus morphology / MGI
abnormal lateral ventricle morphology / MGI
abnormal hindbrain morphology / MGI
abnormal medulla oblongata morphology / MGI
abnormal cerebellum morphology / MGI
abnormal cerebellar Purkinje cell layer / MGI
abnormal midbrain morphology / MGI
abnormal superior colliculus morphology / MGI
exencephaly / MGI
incomplete rostral neuropore closure / MGI
wavy neural tube / MGI
abnormal rhombomere morphology / MGI
abnormal telencephalon development / MGI
abnormal folding of telencephalic vesicles / MGI
abnormal cranial ganglia morphology / MGI
pigmentation phenotype / MGI
abnormal epidermal layer morphology / MGI
abnormal epidermis stratum basale morphology / MGI
abnormal eye development / MGI
anophthalmia / MGI
microphthalmia / MGI
eyelids open at birth / MGI
abnormal retina morphology / MGI
absent optic nerve / MGI
thick apical ectodermal ridge / MGI
increased embryo size / MGI
edema / MGI
skin edema / MGI
hydroencephaly / MGI
hemorrhage / MGI
respiratory distress / MGI
prenatal lethality / MGI
perinatal lethality / MGI
postnatal lethality / MGI
abnormal embryonic tissue morphology / MGI
abnormal eye morphology / MGI
abnormal vibrissa morphology / MGI
abnormal limb morphology / MGI
abnormal digit morphology / MGI
abnormal axial skeleton morphology / MGI
abnormal limb bone morphology / MGI
abnormal kidney morphology / MGI
abnormal neural tube morphology / MGI
abnormal brain morphology / MGI
no abnormal phenotype detected / MGI
absent corpus callosum / MGI
abnormal nose morphology / MGI
abnormal nasal cavity morphology / MGI
abnormal nasal septum morphology / MGI
abnormal laryngeal cartilage morphology / MGI
brachyphalangia / MGI
delayed neural tube closure / MGI
spongiform encephalopathy / MGI
absent tibia / MGI
short tibia / MGI
short fibula / MGI
abnormal pharyngeal arch morphology / MGI
abnormal bone mineralization / MGI
no phenotypic analysis / MGI
omphalocele / MGI
abnormal superior semicircular canal morphology / MGI
abnormal metatarsal bone morphology / MGI
abnormal metacarpal bone morphology / MGI
short femur / MGI
anal atresia / MGI
absent lateral semicircular canal / MGI
abnormal optic vesicle formation / MGI
absent olfactory bulb / MGI
single kidney / MGI
nervous system phenotype / MGI
small lung / MGI
abnormal radial glial cell morphology / MGI
abnormal long bone morphology / MGI
abnormal facial morphology / MGI
abnormal lambdoid suture morphology / MGI
abnormal craniofacial development / MGI
abnormal ear development / MGI
embryonic growth retardation / MGI
polysyndactyly / MGI
abnormal spine curvature / MGI
abnormal optic stalk morphology / MGI
abnormal optic cup morphology / MGI
short sternum / MGI
short humerus / MGI
short radius / MGI
bowed tibia / MGI
short ulna / MGI
bowed ulna / MGI
bowed fibula / MGI
bowed radius / MGI
abnormal orbitosphenoid bone morphology / MGI
small basisphenoid bone / MGI
basisphenoid bone foramen / MGI
abnormal pubis morphology / MGI
abnormal palatine bone horizontal plate morphology / MGI
abnormal embryonic autopod plate morphology / MGI
abnormal vertebral arch morphology / MGI
vertebral fusion / MGI
fusion of vertebral arches / MGI
sacral vertebral fusion / MGI
abnormal anterior cardinal vein morphology / MGI
cleft upper lip / MGI
eyelids fail to open / MGI
abnormal olfactory nerve morphology / MGI
abnormal olfactory tract morphology / MGI
abnormal phalanx morphology / MGI
absent adrenal gland / MGI
hypopigmentation / MGI
abnormal skeleton morphology / MGI
abnormal cerebral aqueduct morphology / MGI
decreased lung weight / MGI
abnormal limb bud morphology / MGI
abnormal neuronal migration / MGI
abnormal otic vesicle development / MGI
thin cerebral cortex / MGI
abnormal digit development / MGI
abnormal nasal placode morphology / MGI
enlarged first pharyngeal arch / MGI
increased diameter of humerus / MGI
increased diameter of radius / MGI
increased diameter of ulna / MGI
absent hippocampal commissure / MGI
absent anterior commissure / MGI
abnormal endochondral bone ossification / MGI
failure of endochondral bone ossification / MGI
abnormal cerebral hemisphere morphology / MGI
embryonic lethality / MGI
abnormal olfactory epithelium morphology / MGI
abnormal interfrontal bone morphology / MGI
bleb / MGI
fused carpal bones / MGI
fused tarsal bones / MGI
hemimelia / MGI
abnormal vibrissa number / MGI
enlarged tectum / MGI
abnormal hallux morphology / MGI
abnormal left lung morphology / MGI
abnormal right lung accessory lobe morphology / MGI
abnormal right lung middle lobe morphology / MGI
abnormal right lung caudal lobe morphology / MGI
reduced cerebellar foliation / MGI
preaxial polydactyly / MGI
abnormal optic chiasm morphology / MGI
abnormal melanoblast morphology / MGI
sternebra fusion / MGI
mortality/aging / MGI
postnatal lethality, complete penetrance / MGI
neonatal lethality, complete penetrance / MGI
perinatal lethality, complete penetrance / MGI
embryonic lethality before implantation, complete penetrance / MGI
prenatal lethality, incomplete penetrance / MGI
embryonic lethality during organogenesis, incomplete penetrance / MGI
ectopic adrenal gland / MGI
camptomelia / MGI
ectopic ovary / MGI
increased total retina thickness / MGI
acoria / MGI
abnormal midbrain-hindbrain boundary morphology / MGI
increased forebrain size / MGI
split sternal manubrium / MGI
absent epiglottis / MGI
absent pineal gland / MGI
Harderian gland hyperplasia / MGI
decreased nipple number / MGI
abnormal mammary line morphology / MGI
abnormal mammary gland bud morphology / MGI
abnormal forehead morphology / MGI
short nasal septum / MGI
thick nasal septum / MGI
wide sagittal suture / MGI
premature lambdoid suture closure / MGI
wide metopic suture / 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

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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^*

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Practical information

Genotyping protocol

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STOCK Tbcepmn +/+ Gli3Xt/PasOrl