C57BL/6N-Atm1Brd Trappc9tm1a(EUCOMM)Wtsi/WtsiPh

Status

Under development - register interest

EMMA IDEM:14470
Citation informationRRID:IMSR_EM:14470 

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International strain nameC57BL/6N-Atm1Brd Trappc9tm1a(EUCOMM)Wtsi/WtsiPh
Alternative nameEPD0596_4_E10
Strain typeTargeted Mutant Strains
Allele/Transgene symbolTrappc9tm1a(EUCOMM)Wtsi
Gene/Transgene symbolTrappc9
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 EPD0596_4_E10. 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 centreInstitute of Molecular Genetics, Prague, Czech Republic

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

    • Autosomal recessive non-syndromic intellectual disability / Orphanet_88616
    • Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome / Orphanet_352530
IMPC phenotypes (allele matching)
  • increased monocyte cell number / IMPC
  • increased circulating insulin level / IMPC
  • abnormal vibrissa morphology / IMPC
  • increased mean platelet volume / IMPC
  • decreased lean body mass / IMPC
  • impaired glucose tolerance / IMPC
  • decreased mean corpuscular hemoglobin / IMPC
  • increased circulating sodium level / IMPC
  • decreased gamma-delta T cell number / IMPC
  • increased total body fat amount / IMPC
  • decreased grip strength / IMPC
  • increased red blood cell distribution width / IMPC
  • decreased bone mineral content / IMPC
  • decreased KLRG1-positive NK cell number / IMPC
  • increased Ly6C high monocyte number / IMPC
  • increased Ly6C low monocyte number / IMPC
  • increased fasting circulating glucose level / IMPC
  • increased CD11b-high dendritic cell number / IMPC
  • decreased CD11b-low dendritic cell number / IMPC
IMPC phenotypes (gene matching)
  • increased fasting circulating glucose level / IMPC
  • increased CD11b-high dendritic cell number / IMPC
  • decreased lean body mass / IMPC
  • decreased bone mineral content / IMPC
  • increased total body fat amount / IMPC
  • increased red blood cell distribution width / IMPC
  • decreased grip strength / IMPC
  • increased Ly6C high monocyte number / IMPC
  • abnormal vibrissa morphology / IMPC
  • decreased mean corpuscular hemoglobin / IMPC
  • decreased gamma-delta T cell number / IMPC
  • increased circulating sodium level / IMPC
  • increased monocyte cell number / IMPC
  • decreased KLRG1-positive NK cell number / IMPC
  • impaired glucose tolerance / IMPC
  • increased circulating insulin level / IMPC
  • increased mean platelet volume / IMPC
  • increased Ly6C low monocyte number / IMPC
  • decreased CD11b-low dendritic cell number / IMPC
MGI phenotypes (allele matching)
  • abnormal interatrial septum morphology / MGI
  • abnormal urethra morphology / MGI
  • abnormal lateral ventricle morphology / MGI
  • abnormal dorsal root ganglion morphology / MGI
  • internal hemorrhage / MGI
  • hemorrhage / MGI
  • thoracoschisis / MGI
  • abnormal cystic duct morphology / MGI
  • abnormal inferior vena cava valve morphology / MGI
  • abnormal pulmonary valve cusp morphology / MGI
  • dual inferior vena cava / MGI
  • absent segment of posterior cerebral artery / MGI
  • absent ductus venosus valve / MGI
  • abnormal infrahyoid muscle connection / MGI
  • multiple persisting craniopharyngeal ducts / MGI
  • blood in lymph vessels / MGI
  • heterochrony / MGI
MGI phenotypes (gene matching)
  • abnormal interatrial septum morphology / MGI
  • abnormal urethra morphology / MGI
  • abnormal lateral ventricle morphology / MGI
  • abnormal dorsal root ganglion morphology / MGI
  • internal hemorrhage / MGI
  • hemorrhage / MGI
  • thoracoschisis / MGI
  • abnormal cystic duct morphology / MGI
  • abnormal inferior vena cava valve morphology / MGI
  • abnormal pulmonary valve cusp morphology / MGI
  • dual inferior vena cava / MGI
  • absent segment of posterior cerebral artery / MGI
  • absent ductus venosus valve / MGI
  • abnormal infrahyoid muscle connection / MGI
  • multiple persisting craniopharyngeal ducts / MGI
  • blood in lymph vessels / MGI
  • heterochrony / MGI
  • hemangioma / MGI

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Register interest

Availabilities

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    Practical information

    Genotyping protocol

    Example health report
    (Current health report will be provided later)

    Material Transfer Agreement (MTA)
    Distribution of this strain is subject to a provider MTA. Both signing of the MTA and submission of the online EMMA Mutant Request Form are required before material can be shipped.

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