Gnptabnym/+

Status

Available to order

EMMA IDEM:09367
Citation informationRRID:IMSR_EM:09367 

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 nameGnptabnym/+
Alternative nameGnptab
Strain typeInduced Mutant Strains : Chemically-induced
Allele/Transgene symbolGnptabnym
Gene/Transgene symbolGnptab

Information from provider

ProviderKay Davies
Provider affiliationPhysiology, Anatomy and Genetics, University of Oxford
Genetic informationHeterozygous mouse (Gnptabnym/+) carrying a truncation mutation in the Gnptab gene. This mutation introduces a T to A substitution at nucleotide 2601 of the cDNA sequence (T2601-nym/nym) by crossing heterozygous mice are mouse models of the human disease Mucolipidosis II.
Phenotypic informationHomozygous:
The Gnptab mouse is a model of a rare lysosomal storage disorder, Mucolipidosis II. The mice present with facial and skeletal abnormalities, mislocalisation of lysosomal enzymes, abnormal intracellular storage and also psychomotor retardation, motor dysfunction and reduced life span.

Heterozygous:
The Gnptab mice were indistinguishable from wild-type controls, in fertility, size, body weight progression, facial features, survival, motor co-ordination and muscle strength. However they present with 2-3 fold increase in hydrolase activity in the blood sera, common for carriers of Mucolipidosis II.
References
  • A novel mouse model of a patient mucolipidosis II mutation recapitulates disease pathology.;Paton Leigh, Bitoun Emmanuelle, Kenyon Janet, Priestman David A, Oliver Peter L, Edwards Benjamin, Platt Frances M, Davies Kay E, ;2014;The Journal of biological chemistry;289;26709-26721; 25107912
Homozygous fertileno
Homozygous viableyes
Homozygous matings requiredno
Immunocompromisednot known

Information from EMMA

Archiving centreMary Lyon Centre at MRC Harwell, Oxford, United Kingdom

Disease and phenotype information

MGI allele-associated human disease models

Orphanet associated rare diseases, based on orthologous gene matching

IMPC phenotypes (gene matching)
  • enlarged ovary / IMPC
  • abnormal heart morphology / IMPC
  • abnormal blood vessel morphology / IMPC
  • abnormal skin morphology / IMPC
  • abnormal spleen morphology / IMPC
  • small kidney / IMPC
  • enlarged spleen / IMPC
  • no spontaneous movement / IMPC
  • enlarged lymph nodes / IMPC
  • abnormal placenta size / IMPC
  • small heart / IMPC
  • abnormal lymph node morphology / IMPC
  • preweaning lethality, incomplete penetrance / IMPC
  • abnormal placenta vasculature / IMPC
  • cataract / IMPC
  • enlarged heart / IMPC
  • abnormal ovary morphology / IMPC
  • abnormal vitreous body morphology / IMPC
  • abnormal placenta morphology / IMPC
  • abnormal stomach morphology / IMPC
  • abnormal kidney morphology / IMPC
  • abnormal uterus morphology / IMPC
  • enlarged kidney / IMPC
  • small stomach / IMPC
MGI phenotypes (allele matching)
  • kyphosis / MGI
  • abnormal chondrocyte morphology / MGI
  • flattened snout / MGI
  • progressive muscle weakness / MGI
  • decreased brain size / MGI
  • Purkinje cell degeneration / MGI
  • abnormal cerebellar molecular layer / MGI
  • demyelination / MGI
  • thick skin / MGI
  • decreased body size / MGI
  • ataxia / MGI
  • impaired coordination / MGI
  • abnormal gait / MGI
  • limb grasping / MGI
  • postnatal growth retardation / MGI
  • brain inflammation / MGI
  • abnormal pancreas morphology / MGI
  • premature death / MGI
  • abnormal fertility/fecundity / MGI
  • astrocytosis / MGI
  • abnormal skin turgor / MGI
  • abnormal facial morphology / MGI
  • abnormal cerebellar cortex morphology / MGI
  • abnormal spine curvature / MGI
  • lysosomal protein accumulation / MGI
  • abnormal skeleton morphology / MGI
  • abnormal enzyme/coenzyme activity / MGI
  • thick eyelids / MGI
  • abnormal hippocampus CA1 region morphology / MGI
  • abnormal hippocampus CA3 region morphology / MGI
  • decreased survivor rate / MGI
  • penis prolapse / MGI
  • abnormal pancreatic acinar cell morphology / MGI
  • abnormal cerebellum white matter morphology / MGI
  • axonal spheroids / MGI
  • prenatal lethality, incomplete penetrance / MGI
  • brain atrophy / MGI
  • Purkinje cell axonal dystrophy / MGI
  • abnormal cognition / MGI
  • cerebellum atrophy / MGI
  • small nasal bridge / MGI
MGI phenotypes (gene matching)
  • decreased bone mineral density / MGI
  • osteoporosis / MGI
  • kyphosis / MGI
  • abnormal chondrocyte morphology / MGI
  • abnormal cell morphology / MGI
  • flattened snout / MGI
  • abnormal salivary gland morphology / MGI
  • progressive muscle weakness / MGI
  • decreased brain size / MGI
  • Purkinje cell degeneration / MGI
  • abnormal cerebellar molecular layer / MGI
  • demyelination / MGI
  • abnormal bulbourethral gland morphology / MGI
  • thick skin / MGI
  • decreased body length / MGI
  • decreased body weight / MGI
  • decreased body size / MGI
  • retinal degeneration / MGI
  • ataxia / MGI
  • impaired coordination / MGI
  • abnormal gait / MGI
  • limb grasping / MGI
  • abnormal osteoclast physiology / MGI
  • abnormal circulating enzyme level / MGI
  • postnatal growth retardation / MGI
  • brain inflammation / MGI
  • abnormal pancreas morphology / MGI
  • premature death / MGI
  • abnormal skeleton development / MGI
  • abnormal fertility/fecundity / MGI
  • no abnormal phenotype detected / MGI
  • abnormal lysosome physiology / MGI
  • increased lysosomal enzyme secretion / MGI
  • astrocytosis / MGI
  • abnormal skin turgor / MGI
  • abnormal retinal photoreceptor layer morphology / MGI
  • abnormal facial morphology / MGI
  • abnormal submandibular gland morphology / MGI
  • abnormal compact bone morphology / MGI
  • decreased lean body mass / MGI
  • decreased bone mass / MGI
  • abnormal cerebellar cortex morphology / MGI
  • abnormal spine curvature / MGI
  • abnormal long bone diaphysis morphology / MGI
  • short vertebral column / MGI
  • increased osteoclast cell number / MGI
  • abnormal osteoblast morphology / MGI
  • decreased osteoblast cell number / MGI
  • increased bone resorption / MGI
  • abnormal lysosome morphology / MGI
  • lysosomal protein accumulation / MGI
  • abnormal exocrine pancreas morphology / MGI
  • abnormal skeleton morphology / MGI
  • abnormal eye electrophysiology / MGI
  • abnormal enzyme/coenzyme activity / MGI
  • thick eyelids / MGI
  • abnormal epiphyseal plate morphology / MGI
  • abnormal hippocampus CA1 region morphology / MGI
  • abnormal hippocampus CA3 region morphology / MGI
  • retinal photoreceptor degeneration / MGI
  • increased interleukin-6 secretion / MGI
  • abnormal osteocyte morphology / MGI
  • decreased survivor rate / MGI
  • penis prolapse / MGI
  • abnormal pancreatic acinar cell morphology / MGI
  • abnormal pancreatic acinar cell zymogen granule morphology / MGI
  • abnormal cerebellum white matter morphology / MGI
  • axonal spheroids / MGI
  • decreased bone mineral content / MGI
  • decreased trabecular bone volume / MGI
  • prenatal lethality, incomplete penetrance / MGI
  • impaired osteoblast differentiation / MGI
  • brain atrophy / MGI
  • Purkinje cell axonal dystrophy / MGI
  • abnormal exocrine gland morphology / MGI
  • abnormal lateral nasal gland morphology / MGI
  • abnormal parotid gland acinus morphology / MGI
  • abnormal cognition / MGI
  • cerebellum atrophy / MGI
  • small nasal bridge / MGI
  • coarse facial features / MGI

Literature references

  • A novel mouse model of a patient mucolipidosis II mutation recapitulates disease pathology.;Paton Leigh, Bitoun Emmanuelle, Kenyon Janet, Priestman David A, Oliver Peter L, Edwards Benjamin, Platt Frances M, Davies Kay E, ;2014;The Journal of biological chemistry;289;26709-26721; 25107912

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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*
  • Tissue - Types of tissue, service fee and delivery time available upon request

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Practical information

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