IMPC phenotypes (gene matching)
C57BL/6N-Uchl1tm1c(EUCOMM)Hmgu/H
| Status | Under development - register interest |
| EMMA ID | EM:16804 |
| Citation information | RRID:IMSR_EM:16804 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 | C57BL/6N-Uchl1tm1c(EUCOMM)Hmgu/H |
| Alternative name | C57BL/6N-Uchl1 |
| Strain type | Targeted Mutant Strains : Conditional mutation |
| Allele/Transgene symbol | Uchl1tm1c(EUCOMM)Hmgu |
| Gene/Transgene symbol | Uchl1 |
Information from provider
| Provider | MRC, Medical Research Council |
| Provider affiliation | Mary Lyon Centre at MRC Harwell |
| Genetic information | This line originates from ESC clone HEPD0603_7_H04, after breeding with a Flp recombinase deleter line to convert the original targeted allele tm1a (knock-out first allele) into a conditional allele tm1c. For further details on the construction of this clone see the page at the IMPC portal. |
| Phenotypic information | Homozygous:These mice are part of the International Mouse Phenotyping Consortium (IMPC) and will be phenotyped through a standardised phenotyping pipeline. Details of the pipeline and data, when available, can be viewed at www.mousephenotype.orgHeterozygous:These mice are part of the International Mouse Phenotyping Consortium (IMPC) and will be phenotyped through a standardised phenotyping pipeline. Details of the pipeline and data, when available, can be viewed at www.mousephenotype.org |
| References | None available |
| Homozygous fertile | not known |
| Homozygous viable | not known |
| Homozygous matings required | not known |
| Immunocompromised | not known |
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
- Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome / Orphanet_352654
MGI phenotypes (gene matching)
- kyphosis / MGI
- abnormal hindlimb morphology / MGI
- tremors / MGI
- paralysis / MGI
- hindlimb paralysis / MGI
- forelimb paralysis / MGI
- abnormal medulla oblongata morphology / MGI
- motor neuron degeneration / MGI
- abnormal dorsal root ganglion morphology / MGI
- abnormal neuromuscular synapse morphology / MGI
- decreased body weight / MGI
- weight loss / MGI
- abnormal stationary movement / MGI
- ataxia / MGI
- impaired coordination / MGI
- abnormal gait / MGI
- limb grasping / MGI
- increased thermal nociceptive threshold / MGI
- premature death / MGI
- neurodegeneration / MGI
- abnormal PNS synaptic transmission / MGI
- abnormal endplate potential / MGI
- increased synaptic depression / MGI
- decreased paired-pulse facilitation / MGI
- increased coping response / MGI
- axonal dystrophy / MGI
- abnormal locomotor coordination / MGI
- decreased neurotransmitter release / MGI
- abnormal miniature endplate potential / MGI
- abnormal synaptic plasticity / MGI
- renal/urinary system phenotype / MGI
- liver/biliary system phenotype / MGI
- digestive/alimentary phenotype / MGI
- cardiovascular system phenotype / MGI
- respiratory system phenotype / MGI
- hematopoietic system phenotype / MGI
- axon degeneration / MGI
- abnormal spinal cord dorsal column morphology / MGI
- decreased grip strength / MGI