C57BL/6J-Tie1^em2Kaali/Oulu

Status	Available to order
EMMA ID	EM:15997
Citation information	RRID:IMSR_EM:15997 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information.
International strain name	C57BL/6J-Tie1^em2Kaali/Oulu
Alternative name	Tie1M1106R (Tie1-MR)
Strain type	Endonuclease-mediated
Allele/Transgene symbol	Tie1^em2Kaali
Gene/Transgene symbol	Tie1

Information from provider

Provider	Kari Alitalo
Provider affiliation	Wihuri Research Institute
Genetic information	Using the CRISPR/Cas9 technique, three point mutations were introduced in exon 22 of the Tie1 gene. One of these mutations was designed to cause an amino acid substitution at codon 1106, changing methionine (Met) to arginine (Arg). The other two mutations were silent with respect to the encoded amino acid residues. These additional mutations were introduced to prevent the function of the RNP complex on the already modified genomic DNA and to create a novel restriction enzyme site, which was subsequently used for genotyping. Changes in exon 22 Codon 1095 (silent mutation): CCC (Pro) → CCT (Pro) → no amino acid change Codon 1100 (silent mutation): GCA (Ala) → GCG (Ala) → no amino acid change Codon 1106 (knock-in mutation): ATG (Met) → AGG (Arg) → amino acid change CRISPR technology details: The Alt-R™ S.p. HiFi Cas9 Nuclease V3 was obtained from Integrated DNA Technologies. The Cas9 gene was not inserted into the mouse genome.
Phenotypic information	Homozygous: About 50% of the mice homozygous for the mutation die soon after birth. At E18.5, the affected homozygous embryos appear swollen and display lymphatic defects in the dorsal skin and mesentery. The homozygous mice that survive into adulthood do not display any obvious phenotype. The phenotype has not been fully characterized or published Heterozygous: Mice heterozygous for the mutation do not display any obvious phenotype.
Breeding history	Microinjected embryos of C57BL/6J origin were transferred into pseudopregnant females, and pups carrying the knock-in allele were backcrossed to the C57BL/6J strain. The F1 generation was subsequently backcrossed to the C57BL/6J strain for eight additional generations.
References	Loss-of-function mutations of the TIE1 receptor tyrosine kinase cause late-onset primary lymphedema.;Brouillard Pascal, Murtomäki Aino, Leppänen Veli-Matti, Hyytiäinen Marko, Mestre Sandrine, Potier Lucas, Boon Laurence M, Revencu Nicole, Greene Arin, Anisimov Andrey, Salo Miia H, Hinttala Reetta, Eklund Lauri, Quéré Isabelle, Alitalo Kari, Vikkula Miikka, ;2024;The Journal of clinical investigation;134;; 38820174
Homozygous fertile	not known
Homozygous viable	yes
Homozygous matings required	no
Immunocompromised	no

Information from EMMA

Archiving centre	University of Oulu, Oulu, Finland

Disease and phenotype information

MGI phenotypes (gene matching)

abnormal small intestine morphology / MGI
thick pulmonary interalveolar septum / MGI
edema / MGI
skin edema / MGI
abnormal lymphatic vessel morphology / MGI
hemorrhage / MGI
respiratory failure / MGI
postnatal lethality / MGI
no abnormal phenotype detected / MGI
small heart / MGI
abnormal pulmonary alveolus morphology / MGI
abnormal heart atrium morphology / MGI
abnormal vascular branching morphogenesis / MGI
intestinal edema / MGI
abnormal vascular endothelial cell development / MGI
abnormal lymph circulation / MGI
pulmonary edema / MGI
abnormal endocardium morphology / MGI
lymphatic vessel hyperplasia / MGI
dilated vasculature / MGI
abnormal renal glomerulus morphology / MGI
cardiovascular system phenotype / MGI
abnormal vascular endothelial cell morphology / MGI
abnormal lymphangiogenesis / MGI
neonatal lethality, complete penetrance / MGI
perinatal lethality, complete penetrance / MGI
lethality throughout fetal growth and development, complete penetrance / MGI
prenatal lethality, incomplete penetrance / MGI
embryonic lethality during organogenesis, incomplete penetrance / MGI

Literature references

Loss-of-function mutations of the TIE1 receptor tyrosine kinase cause late-onset primary lymphedema.;Brouillard Pascal, Murtomäki Aino, Leppänen Veli-Matti, Hyytiäinen Marko, Mestre Sandrine, Potier Lucas, Boon Laurence M, Revencu Nicole, Greene Arin, Anisimov Andrey, Salo Miia H, Hinttala Reetta, Eklund Lauri, Quéré Isabelle, Alitalo Kari, Vikkula Miikka, ;2024;The Journal of clinical investigation;134;; 38820174

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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^*

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Practical information

Example health report
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Material Transfer Agreement (MTA)
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C57BL/6J-Tie1em2Kaali/Oulu