C57BL/6N-Atm1Brd Prps1tm1a(EUCOMM)Wtsi/WtsiH

Status

Available to order

EMMA IDEM:08579
Citation informationRRID:IMSR_EM:08579 

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-Atm1Brd Prps1tm1a(EUCOMM)Wtsi/WtsiH
Alternative nameEPD0436_5_A05
Strain typeTargeted Mutant Strains
Allele/Transgene symbolPrps1tm1a(EUCOMM)Wtsi
Gene/Transgene symbolPrps1
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 Wellcome Trust Sanger Institute
Provider affiliationWellcome Trust Sanger Institute
Genetic informationThis mouse line originates from EUCOMM ES clone EPD0436_5_A05. 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

    • X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome / Orphanet_423479
    • Lethal ataxia with deafness and optic atrophy / Orphanet_1187
    • Severe phosphoribosylpyrophosphate synthetase superactivity / Orphanet_411543
    • X-linked non-syndromic sensorineural deafness type DFN / Orphanet_90625
    • X-linked Charcot-Marie-Tooth disease type 5 / Orphanet_99014
    • Mild phosphoribosylpyrophosphate synthetase superactivity / Orphanet_411536
IMPC phenotypes (gene matching)
  • preweaning lethality, complete penetrance / IMPC

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