C57BL/6NTac-Setd5^{tm1a(EUCOMM)Wtsi}/WtsiOulu

Status	Available to order
EMMA ID	EM:11199
International strain name	C57BL/6NTac-Setd5^{tm1a(EUCOMM)Wtsi}/WtsiOulu
Alternative name	EPD0036_3_F05
Strain type	Targeted Mutant Strains
Allele/Transgene symbol	Setd5^{tm1a(EUCOMM)Wtsi}
Gene/Transgene symbol	Setd5
Disclaimer	Please note that for EUCOMM and KOMP-CSD mice supplied to the scientific community by INFRAFRONTIER/EMMA: 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. 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. No check for determining the copy number of the targeting construct in ES cells obtained from EUCOMM/KOMP is done by INFRAFRONTIER/EMMA. 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 affiliation	Wellcome Trust Sanger Institute
Genetic information	This 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 information	Potential 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 centre	University of Oulu, Oulu, Finland

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

Cornelia de Lange syndrome / Orphanet_199
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency / Orphanet_404440

IMPC phenotypes (allele matching)

increased monocyte cell number / IMPC
abnormal cranium morphology / IMPC
abnormal snout morphology / IMPC
abnormal maxilla morphology / IMPC
abnormal coat/hair pigmentation / IMPC
abnormal tooth morphology / IMPC
vertebral fusion / IMPC
abnormal auditory brainstem response / IMPC
increased regulatory T cell number / IMPC
abnormal incisor morphology / IMPC
decreased circulating glucose level / IMPC
absent pinna reflex / IMPC
decreased grip strength / IMPC
preweaning lethality, complete penetrance / IMPC

IMPC phenotypes (gene matching)

abnormal coat/hair pigmentation / IMPC
abnormal maxilla morphology / IMPC
increased regulatory T cell number / IMPC
decreased circulating glucose level / IMPC
abnormal snout morphology / IMPC
abnormal auditory brainstem response / IMPC
absent pinna reflex / IMPC
preweaning lethality, complete penetrance / IMPC
abnormal cranium morphology / IMPC
abnormal tooth morphology / IMPC
increased monocyte cell number / IMPC
decreased grip strength / IMPC
abnormal incisor morphology / IMPC
vertebral fusion / 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

MGI phenotypes (gene 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

Information on how we integrate external resources can be found here

Order

Availabilities

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

Frozen embryos. Delivered in 4 weeks (after paperwork in place). €1740^*
Frozen sperm. Delivered in 4 weeks (after paperwork in place). €1740^*
Rederivation of mice from frozen stock, delivery time available upon request . €3880^*
LacZ tagged null allele (tm1b allele), service fee and delivery time available upon request
Conditional ready allele (tm1c allele), service fee and delivery time available upon request
Reporterless null allele (tm1d allele), service fee and delivery time available upon request

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