C57BL/6N-Atm1Brd Cox6a1tm1(KOMP)Wtsi/WtsiH

Status

Only small colony available

EMMA IDEM:14398
International strain nameC57BL/6N-Atm1Brd Cox6a1tm1(KOMP)Wtsi/WtsiH
Alternative nameEPD0412_2_C09
Strain type
Allele/Transgene symbolCox6a1tm1(KOMP)Wtsi
Gene/Transgene symbolCox6a1
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 KOMP ES clone EPD0412_2_C09. 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

    • Autosomal recessive intermediate Charcot-Marie-Tooth disease type D / Orphanet_435998
MGI phenotypes (allele matching)
  • abnormal liver physiology / MGI
  • impaired coordination / MGI
  • abnormal motor coordination/ balance / MGI
  • abnormal muscle morphology / MGI
  • muscular atrophy / MGI
  • abnormal sciatic nerve morphology / MGI
  • abnormal nerve conduction / MGI
MGI phenotypes (gene matching)
  • abnormal liver physiology / MGI
  • impaired coordination / MGI
  • abnormal motor coordination/balance / MGI
  • abnormal muscle morphology / MGI
  • muscular atrophy / MGI
  • abnormal sciatic nerve morphology / MGI
  • abnormal nerve conduction / MGI

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Order (limited)

Availabilities

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    Example health report
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