Gnptab^nym/+

Status	Available to order
EMMA ID	EM:09367
International strain name	Gnptab^nym/+
Alternative name	Gnptab
Strain type	Induced Mutant Strains : Chemically-induced
Allele/Transgene symbol	Gnptab^nym
Gene/Transgene symbol	Gnptab

Information from provider

Provider	Kay Davies
Provider affiliation	Physiology, Anatomy and Genetics, University of Oxford
Genetic information	Heterozygous mouse (Gnptab^nym/+) 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 information	Homozygous: 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 fertile	no
Homozygous viable	yes
Homozygous matings required	no
Immunocompromised	not known

Information from EMMA

Archiving centre	Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom

Disease and phenotype information

MGI allele-associated human disease models

inclusion-cell disease / DOID:0080070

Orphanet associated rare diseases, based on orthologous gene matching

Mucolipidosis type III alpha/beta / Orphanet_423461
Mucolipidosis type II / Orphanet_576

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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Frozen sperm. Delivered in 4 weeks (after paperwork in place). €1740^*
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Gnptabnym/+