C57BL/6N-A^tm1Brd Sik3^{tm1a(EUCOMM)Hmgu}/WtsiOrl

Status	Available to order
EMMA ID	EM:12432
International strain name	C57BL/6N-A^tm1Brd Sik3^{tm1a(EUCOMM)Hmgu}/WtsiOrl
Alternative name	HEPD0744_6_B02
Strain type	Targeted Mutant Strains
Allele/Transgene symbol	Sik3^{tm1a(EUCOMM)Hmgu}
Gene/Transgene symbol	Sik3
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 HEPD0744_6_B02. 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	Functional analysis of candidate genes from genome-wide association studies of hearing.;Ingham Neil J, Rook Victoria, Di Domenico Francesca, James Elysia, Lewis Morag A, Girotto Giorgia, Buniello Annalisa, Steel Karen P, ;2020;Hearing research;387;107879; 31927188

Information from EMMA

Archiving centre	Institut de Transgenose, INTRAGENE, Orléans, France

Disease and phenotype information

IMPC phenotypes (allele matching)

abnormal vertebrae morphology / IMPC
abnormal rib morphology / IMPC
kyphosis / IMPC
decreased circulating HDL cholesterol level / IMPC
decreased circulating calcium level / IMPC
decreased hematocrit / IMPC
increased granulocyte number / IMPC
abnormal cranium morphology / IMPC
abnormal radius morphology / IMPC
abnormal tibia morphology / IMPC
abnormal femur morphology / IMPC
abnormal cornea morphology / IMPC
abnormal retina morphology / IMPC
female infertility / IMPC
abnormal coat/hair pigmentation / IMPC
abnormal tail morphology / IMPC
abnormal fibula morphology / IMPC
increased mean platelet volume / IMPC
decreased erythrocyte cell number / IMPC
abnormal joint morphology / IMPC
increased circulating alkaline phosphatase level / IMPC
thrombocytopenia / IMPC
abnormal bone structure / IMPC
increased lean body mass / IMPC
abnormal spine curvature / IMPC
abnormal pelvic girdle bone morphology / IMPC
decreased regulatory T cell number / IMPC
increased eosinophil cell number / IMPC
decreased T cell number / IMPC
abnormal ulna morphology / IMPC
decreased circulating cholesterol level / IMPC
abnormal zygomatic bone morphology / IMPC
improved glucose tolerance / IMPC
abnormal humerus morphology / IMPC
increased circulating bilirubin level / IMPC
decreased circulating glucose level / IMPC
increased mean corpuscular hemoglobin / IMPC
decreased blood urea nitrogen level / IMPC
decreased circulating potassium level / IMPC
increased circulating sodium level / IMPC
decreased NK T cell number / IMPC
increased NK cell number / IMPC
decreased NK cell number / IMPC
decreased CD4-positive, alpha-beta T cell number / IMPC
increased CD8-positive, alpha-beta T cell number / IMPC
increased follicular B cell number / IMPC
decreased germinal center B cell number / IMPC
decreased gamma-delta T cell number / IMPC
increased plasmacytoid dendritic cell number / IMPC
increased circulating amylase level / IMPC
decreased total body fat amount / IMPC
increased red blood cell distribution width / IMPC
decreased circulating fructosamine level / IMPC
abnormal thoracic cage shape / IMPC
increased CD4-positive, CD25-positive, alpha-beta regulatory T cell number / IMPC
decreased alpha-beta T cell number / IMPC
decreased KLRG1-positive NK cell number / IMPC
obsolete decreased CD4-positive, alpha beta T cell number / IMPC
increased KLRG1+ CD8 alpha-beta T cell number / IMPC
increased memory-marker gamma-delta T cell number / IMPC
decreased CD5-positive gamma-delta T cell number / IMPC
increased memory-marker NK cell number / IMPC
increased KLRG1-positive CD4-positive, CD25-positive, alpha-beta regulatory T cell number / IMPC
increased CD8-positive, naive alpha-beta T cell number / IMPC
increased CD4-negative NK T cell number / IMPC
decreased memory-marker CD4-negative NK T cell number / IMPC
increased KLRG1-positive CD4-negative NK T cell number / IMPC
decreased CD4-positive NK T cell number / IMPC
decreased memory-marker CD4-positive NK T cell number / IMPC
decreased Ly6C-positive mature NK cell number / IMPC
increased Ly6C-positive NK T cell number / IMPC
decreased early germinal center B cell number / IMPC
decreased T-helper cell number / IMPC
decreased effector memory T-helper cell number / IMPC
increased effector memory T-helper cell number / IMPC
decreased KLRG1-positive T-helper cell number / IMPC
increased KLRG1-positive T-helper cell number / IMPC

IMPC phenotypes (gene matching)

decreased gamma-delta T cell number / IMPC
increased red blood cell distribution width / IMPC
decreased effector memory T-helper cell number / IMPC
increased memory-marker gamma-delta T cell number / IMPC
decreased CD4-positive, alpha-beta T cell number / IMPC
abnormal tail morphology / IMPC
abnormal cornea morphology / IMPC
abnormal radius morphology / IMPC
increased NK cell number / IMPC
abnormal rib morphology / IMPC
decreased CD5-positive gamma-delta T cell number / IMPC
increased circulating alkaline phosphatase level / IMPC
increased CD8-positive, alpha-beta T cell number / IMPC
abnormal thoracic cage shape / IMPC
abnormal vertebrae morphology / IMPC
kyphosis / IMPC
increased KLRG1-positive CD4-negative NK T cell number / IMPC
abnormal coat/hair pigmentation / IMPC
decreased KLRG1-positive NK cell number / IMPC
improved glucose tolerance / IMPC
abnormal ulna morphology / IMPC
obsolete decreased CD4-positive, alpha beta T cell number / IMPC
decreased KLRG1-positive T-helper cell number / IMPC
increased mean corpuscular hemoglobin / IMPC
abnormal femur morphology / IMPC
decreased circulating cholesterol level / IMPC
decreased germinal center B cell number / IMPC
decreased regulatory T cell number / IMPC
increased plasmacytoid dendritic cell number / IMPC
increased CD4-negative NK T cell number / IMPC
increased mean platelet volume / IMPC
abnormal cranium morphology / IMPC
decreased T-helper cell number / IMPC
female infertility / IMPC
decreased NK cell number / IMPC
decreased total body fat amount / IMPC
abnormal retina morphology / IMPC
decreased circulating calcium level / IMPC
decreased circulating fructosamine level / IMPC
abnormal zygomatic bone morphology / IMPC
decreased memory-marker CD4-positive NK T cell number / IMPC
abnormal pelvic girdle bone morphology / IMPC
increased KLRG1-positive CD4-positive, CD25-positive, alpha-beta regulatory T cell number / IMPC
increased memory-marker NK cell number / IMPC
decreased blood urea nitrogen level / IMPC
abnormal tibia morphology / IMPC
abnormal joint morphology / IMPC
decreased memory-marker CD4-negative NK T cell number / IMPC
abnormal humerus morphology / IMPC
decreased T cell number / IMPC
decreased Ly6C-positive mature NK cell number / IMPC
abnormal fibula morphology / IMPC
increased effector memory T-helper cell number / IMPC
decreased CD4-positive NK T cell number / IMPC
increased circulating sodium level / IMPC
increased circulating bilirubin level / IMPC
increased CD8-positive, naive alpha-beta T cell number / IMPC
decreased alpha-beta T cell number / IMPC
abnormal spine curvature / IMPC
decreased NK T cell number / IMPC
increased follicular B cell number / IMPC
abnormal bone structure / IMPC
decreased circulating glucose level / IMPC
decreased erythrocyte cell number / IMPC
increased CD4-positive, CD25-positive, alpha-beta regulatory T cell number / IMPC
decreased early germinal center B cell number / IMPC
increased granulocyte number / IMPC
decreased circulating HDL cholesterol level / IMPC
increased Ly6C-positive NK T cell number / IMPC
thrombocytopenia / IMPC
increased KLRG1-positive T-helper cell number / IMPC
decreased hematocrit / IMPC
decreased circulating potassium level / IMPC
increased KLRG1+ CD8 alpha-beta T cell number / IMPC
increased eosinophil cell number / IMPC
increased circulating amylase level / IMPC
increased lean body mass / IMPC

MGI phenotypes (gene matching)

abnormal parietal bone morphology / MGI
scoliosis / MGI
abnormal cartilage morphology / MGI
decreased chondrocyte number / MGI
decreased circulating HDL cholesterol level / MGI
abnormal liver morphology / MGI
abnormal hepatocyte morphology / MGI
cholestasis / MGI
decreased body weight / MGI
decreased body size / MGI
abnormal eating behavior / MGI
abnormal sleep pattern / MGI
increased circulating triglyceride level / MGI
abnormal homeostasis / MGI
decreased brown adipose tissue amount / MGI
abnormal glucose homeostasis / MGI
abnormal lipid homeostasis / MGI
decreased susceptibility to hepatic steatosis / MGI
decreased circulating triglyceride level / MGI
decreased circulating insulin level / MGI
abnormal bone mineralization / MGI
increased circulating alanine transaminase level / MGI
decreased circulating alanine transaminase level / MGI
increased circulating alkaline phosphatase level / MGI
no phenotypic analysis / MGI
rickets / MGI
decreased liver weight / MGI
decreased width of hypertrophic chondrocyte zone / MGI
delayed intramembranous bone ossification / MGI
abnormal bone structure / MGI
decreased kidney weight / MGI
abnormal cholesterol level / MGI
decreased circulating VLDL triglyceride level / MGI
decreased cholesterol level / MGI
short sternum / MGI
abnormal pelvic girdle bone morphology / MGI
short ribs / MGI
decreased length of long bones / MGI
abnormal vertebral column morphology / MGI
abnormal phospholipid level / MGI
increased bile salt level / MGI
increased adiponectin level / MGI
abnormal brain wave pattern / MGI
abnormal gallbladder morphology / MGI
decreased circulating cholesterol level / MGI
increased oxygen consumption / MGI
improved glucose tolerance / MGI
increased circulating bilirubin level / MGI
behavior/neurological phenotype / MGI
intrahepatic cholestasis / MGI
abnormal circulating protein level / MGI
abnormal circulating hormone level / MGI
abnormal energy homeostasis / MGI
decreased circulating glucose level / MGI
decreased susceptibility to diet-induced obesity / MGI
decreased circulating leptin level / MGI
increased long bone epiphyseal plate size / MGI
decreased subcutaneous adipose tissue amount / MGI
decreased pancreas weight / MGI
decreased fat cell size / MGI
decreased gonadal fat pad weight / MGI
decreased mesenteric fat pad weight / MGI
decreased renal fat pad weight / MGI
enlarged gallbladder / MGI
decreased liver triglyceride level / MGI
abnormal gallbladder epithelium morphology / MGI
decreased liver cholesterol level / MGI
increased liver cholesterol level / MGI
increased respiratory quotient / MGI
delayed cranial suture closure / MGI
increased core body temperature / MGI
neonatal lethality, incomplete penetrance / MGI
abnormal fat cell differentiation / MGI
abnormal retinol level / MGI
abnormal limb long bone morphology / MGI
abnormal paradoxical sleep pattern / MGI
abnormal non-rapid eye movement sleep pattern / MGI
abnormal circadian sleep/wake cycle / MGI
large fontanelles / MGI
rachitic rosary / MGI

Literature references

Functional analysis of candidate genes from genome-wide association studies of hearing.;Ingham Neil J, Rook Victoria, Di Domenico Francesca, James Elysia, Lewis Morag A, Girotto Giorgia, Buniello Annalisa, Steel Karen P, ;2020;Hearing research;387;107879; 31927188

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 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

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/6N-Atm1Brd Sik3tm1a(EUCOMM)Hmgu/WtsiOrl