MGI phenotypes (allele matching)
C3H;C-Pmp22Tr-3H/H
| Status | Available to order |
| EMMA ID | EM:00104 |
| Citation information | RRID:IMSR_EM:00104 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-3H/H |
| Alternative name | GENA370 |
| Strain type | Induced Mutant Strains : Chemically-induced |
| Allele/Transgene symbol | Pmp22Tr-3H |
| Gene/Transgene symbol | Pmp22 |
Information from provider
| Provider | Pat Nolan |
| Provider affiliation | MRC Mammalian Genetics Unit |
| Genetic information | T to A transversion at the first base of codon 72 leading to a serine to threonine substitution in the second membrane domain of Pmp22. |
| Phenotypic information | Resting tremor and fits. |
| References |
|
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
Literature references
- A systematic, genome-wide, phenotype-driven mutagenesis programme for gene function studies in the mouse.;Nolan P M, Peters J, Strivens M, Rogers D, Hagan J, Spurr N, Gray I C, Vizor L, Brooker D, Whitehill E, Washbourne R, Hough T, Greenaway S, Hewitt M, Liu X, McCormack S, Pickford K, Selley R, Wells C, Tymowska-Lalanne Z, Roby P, Glenister P, Thornton C, Thaung C, Stevenson J A, Arkell R, Mburu P, Hardisty R, Kiernan A, Erven A, Steel K P, Voegeling S, Guenet J L, Nickols C, Sadri R, Nasse M, Isaacs A, Davies K, Browne M, Fisher E M, Martin J, Rastan S, Brown S D, Hunter J, ;2000;Nature genetics;25;440-3; 10932191