C57BL/6N-Uchl1tm1a(EUCOMM)Hmgu/H

Status

Available to order

EMMA IDEM:09187
Citation informationRRID:IMSR_EM:09187 

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 nameC57BL/6N-Uchl1tm1a(EUCOMM)Hmgu/H
Alternative nameHEPD0603_7_H04
Strain typeTargeted Mutant Strains
Allele/Transgene symbolUchl1tm1a(EUCOMM)Hmgu
Gene/Transgene symbolUchl1
DisclaimerPlease note that for EUCOMM and KOMP-CSD mice supplied to the scientific community by INFRAFRONTIER/EMMA:
  1. We can not guarantee a null mutation for Knock-out first alleles (tm1a alleles, see http://www.mousephenotype.org/about-ikmc/targeting-strategies) as the critical exon has not been deleted.
  2. That the structure of the targeted mutation in the ES cells obtained from EUCOMM/KOMP to generate EUCOMM/KOMP mice is not verified by INFRAFRONTIER/EMMA. It is recommended that the recipient confirms the mutation structure.
  3. No check for determining the copy number of the targeting construct in ES cells obtained from EUCOMM/KOMP is done by INFRAFRONTIER/EMMA.
  4. The level of quality control before mice are released is to confirm the individual mouse genotype by short range PCR.

Information from provider

Provider MRC, Medical Research Council
Provider affiliationMary Lyon Centre at MRC Harwell
Genetic informationThis mouse line originates from EUCOMM ES clone HEPD0603_7_H04. For further details on the construction of this clone see the page at the IMPC portal.
Phenotypic informationPotential phenotyping data in the IMPC portal
ReferencesNone available

Information from EMMA

Archiving centreMary 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
IMPC phenotypes (gene matching)
  • increased blood urea nitrogen level / IMPC
  • increased startle reflex / IMPC
  • increased circulating alkaline phosphatase level / IMPC
  • abnormal spine curvature / IMPC
  • hyperactivity / IMPC
  • increased mean platelet volume / IMPC
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

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