C57BL/6NTac-Setd5tm1a(EUCOMM)Wtsi/WtsiOulu

Status

Available to order

EMMA IDEM:11199
International strain nameC57BL/6NTac-Setd5tm1a(EUCOMM)Wtsi/WtsiOulu
Alternative nameEPD0036_3_F05
Strain typeTargeted Mutant Strains
Allele/Transgene symbolSetd5tm1a(EUCOMM)Wtsi,
Gene/Transgene symbolSetd5
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 EPD0036_3_F05. For further details on the construction of this clone see the page at the IMPC portal.
Phenotypic informationPotential phenotyping data in the IMPC portal
References
  • The Autism-Related Protein SETD5 Controls Neural Cell Proliferation through Epigenetic Regulation of rDNA Expression.;Nakagawa Tadashi, Hattori Satoko, Nobuta Risa, Kimura Ryuichi, Nakagawa Makiko, Matsumoto Masaki, Nagasawa Yuko, Funayama Ryo, Miyakawa Tsuyoshi, Inada Toshifumi, Osumi Noriko, Nakayama Keiichi I, Nakayama Keiko, ;2020;iScience;23;101030; 32299058

Information from EMMA

Archiving centreUniversity of Oulu, Oulu, Finland

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

IMPC phenotypes (allele matching)
  • abnormal cranium morphology / IMPC
  • abnormal snout morphology / IMPC
  • abnormal maxilla morphology / IMPC
  • abnormal coat/hair pigmentation / IMPC
  • abnormal tooth morphology / IMPC
  • vertebral fusion / IMPC
  • decreased circulating glucose level / IMPC
  • absent pinna reflex / IMPC
  • decreased grip strength / IMPC
  • increased CD4-positive, CD25-positive, alpha-beta regulatory T cell number / IMPC
  • preweaning lethality, complete penetrance / IMPC
  • increased Ly6C low monocyte number / IMPC
MGI phenotypes (allele matching)
  • double outlet right ventricle / MGI
  • enlarged liver sinusoidal spaces / MGI
  • abnormal pineal gland morphology / MGI
  • abnormal thymus morphology / MGI
  • small thymus / MGI
  • abnormal forebrain morphology / MGI
  • abnormal olfactory bulb morphology / MGI
  • abnormal hindbrain morphology / MGI
  • small superior cervical ganglion / MGI
  • persistent truncus arteriosis / MGI
  • small thyroid gland / MGI
  • small kidney / MGI
  • abnormal eye muscle morphology / MGI
  • right aortic arch / MGI
  • fetal growth retardation / MGI
  • abnormal optic stalk morphology / MGI
  • abnormal optic cup morphology / MGI
  • fusion of vertebral arches / MGI
  • abnormal superior vena cava morphology / MGI
  • abnormal cervical rib / MGI
  • enlarged lymphatic vessel / MGI
  • atrial septal defect / MGI
  • perimembraneous ventricular septal defect / MGI
  • muscular ventricular septal defect / MGI
  • double inlet heart left ventricle / MGI
  • abnormal coronary sinus morphology / MGI
  • bicuspid aortic valve / MGI
  • persistent right dorsal aorta / MGI
  • abnormal aortic valve cusp morphology / MGI
  • dual inferior vena cava / MGI
  • absent pectinate muscle / MGI
  • absent brachiocephalic trunk / MGI
  • enlarged orbital veins / MGI
  • dilated hepatic portal vein / MGI
  • abnormal hepatic portal vein connection / MGI
  • abnormal hypoglossal nerve topology / MGI
  • absent segment of posterior cerebral artery / MGI
  • ductus venosus stenosis / MGI
  • subcutaneous edema / MGI
  • abnormal vitelline vein connection / MGI
  • enlarged paraumbilical vein / MGI
  • abnormal ductus venosus topology / MGI
  • absent ductus venosus valve / MGI
  • abnormal ductus venosus valve topology / MGI
  • intraembryonal intestine elongation / MGI
  • reduced sympathetic cervical ganglion size / MGI
  • blood in lymph vessels / MGI
  • symmetric azygos veins / MGI
  • abnormal vitelline vein topology / MGI
  • anastomosis between internal carotid artery and basilar artery / MGI
  • abnormal vertebral artery topology / MGI

Literature references

  • The Autism-Related Protein SETD5 Controls Neural Cell Proliferation through Epigenetic Regulation of rDNA Expression.;Nakagawa Tadashi, Hattori Satoko, Nobuta Risa, Kimura Ryuichi, Nakagawa Makiko, Matsumoto Masaki, Nagasawa Yuko, Funayama Ryo, Miyakawa Tsuyoshi, Inada Toshifumi, Osumi Noriko, Nakayama Keiichi I, Nakayama Keiko, ;2020;iScience;23;101030; 32299058

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Availabilities

Requesting frozen sperm or embryos is generally advisable wherever possible, in order to minimise the shipment of live mice.

Due to the dynamic nature of our processes strain availability may change at short notice. The local repository manager will advise you in these circumstances.

* In addition users have to cover all the shipping costs (including the cost for returning dry-shippers, where applicable).

More details on pricing and delivery times

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.

EMMA conditions
Legally binding conditions for the transfer

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