MGI phenotypes (allele matching)
C3H.C-Pmp22Tr-2H/H
| Status | Available to order |
| EMMA ID | EM:01683 |
| Citation information | RRID:IMSR_EM:01683 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 | C3H.C-Pmp22Tr-2H/H |
| Alternative name | Pmp22 |
| Strain type | Induced Mutant Strains : Chemically-induced |
| Allele/Transgene symbol | Pmp22Tr-2H |
| Gene/Transgene symbol | Pmp22 |
Information from provider
| Provider | Pat Nolan |
| Provider affiliation | MRC Mammalian Genetics Unit |
| Genetic information | A to T transversion at position 459 of peripheral nerve myelination 22 (Pmp22) gene, producing a premature stop codon at residue 153, removing the last three amino acids of the fourth transmembrane domain and the final four amino acids of the intracellular C-terminal domain. |
| Phenotypic information | Whole-body resting tremors and muscle weakness. Histology revealed hypo-myelination of peripheral nerves. |
| References | None available |
Information from EMMA
| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Roussy-Lévy syndrome / Orphanet_3115
- Dejerine-Sottas syndrome / Orphanet_64748
- Charcot-Marie-Tooth disease type 1E / Orphanet_90658
- Hereditary neuropathy with liability to pressure palsies / Orphanet_640
- Charcot-Marie-Tooth disease type 1A / Orphanet_101081
MGI phenotypes (gene matching)
- tremors / MGI
- muscle weakness / MGI
- muscle degeneration / MGI
- hindlimb paralysis / MGI
- forelimb paralysis / MGI
- abnormal myelination / MGI
- demyelination / MGI
- convulsive seizures / MGI
- abnormal dorsal root ganglion morphology / MGI
- abnormal Schwann cell morphology / MGI
- decreased body size / MGI
- ataxia / MGI
- hypoactivity / MGI
- impaired coordination / MGI
- abnormal gait / MGI
- limb grasping / MGI
- abnormal motor coordination/balance / MGI
- impaired righting response / MGI
- postnatal growth retardation / MGI
- reduced male fertility / MGI
- deafness / MGI
- abnormal motor capabilities/coordination/movement / MGI
- postnatal lethality / MGI
- abnormal sexual interaction / MGI
- abnormal neuron morphology / MGI
- increased circulating alkaline phosphatase level / MGI
- abnormal myelin sheath morphology / MGI
- limbs/digits/tail phenotype / MGI
- vision/eye phenotype / MGI
- abnormal action potential / MGI
- abnormal axon morphology / MGI
- axon degeneration / MGI
- abnormal cell physiology / MGI
- impaired hearing / MGI
- abnormal autophagy / MGI
- decreased survivor rate / MGI
- decreased nerve conduction velocity / MGI
- decreased grip strength / MGI
- mortality/aging / MGI
- lethality at weaning, complete penetrance / MGI
- abnormal Schwann cell physiology / MGI
- increased Schwann cell proliferation / MGI
- increased or absent threshold for auditory brainstem response / MGI
- spasticity / MGI