Gnptabnym/+

Status

Available to order

EMMA IDEM:09367
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

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

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

Order

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

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)
MTA will be issued after an order has been submitted.

EMMA conditions
Legally binding conditions for the transfer

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