- 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
Gnptabnym/+
Status | Available to order |
EMMA ID | EM:09367 |
International strain name | Gnptabnym/+ |
Alternative name | Gnptab |
Strain type | Induced Mutant Strains : Chemically-induced |
Allele/Transgene symbol | Gnptabnym, |
Gene/Transgene symbol | Gnptab |
Information from provider
Provider | Kay Davies |
Provider affiliation | Physiology, Anatomy and Genetics, University of Oxford |
Genetic information | Heterozygous 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 information | Homozygous:The Gnptab |
References |
|
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
Orphanet associated rare diseases, based on orthologous gene matching
- Mucolipidosis type III alpha/beta / Orphanet_423461
- Mucolipidosis type II / Orphanet_576
MGI phenotypes (allele matching)
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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