C57BL/6J-Tie1^em1Kaali/Oulu

Status	Available to order
EMMA ID	EM:15969
Citation information	RRID:IMSR_EM:15969 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^em1Kaali/Oulu
Alternative name	Tie1R979W (Tie1-RW)
Strain type	Endonuclease-mediated
Allele/Transgene symbol	Tie1^em-R979W
Gene/Transgene symbol	Tie1

Information from provider

Provider	Kari Alitalo
Provider affiliation	Wihuri Research Institute
Genetic information	Using the CRISPR/Cas9 technique, four point mutations were generated in exon 18 of the Tie1 gene. Two of the mutations were intended to cause an amino acid substitution at codon 979, changing arginine (Arg) to tryptophan (Trp). The other two mutations were silent with respect to the encoded amino acid residues. These additional mutations were required to prevent the RNP complex from targeting the already modified genomic DNA and to create a new restriction enzyme cutting site, which was utilized for genotyping. Changes in exon 18: Codon 978 (silent mutation): GCC (Ala) → GCA (Ala) → no amino acid change Codon 979 (knock-in mutation): CGA (Arg) → TGG (Trp) → amino acid change Codon 980 (silent mutation): AAT (Asn) → AAC (Asn) → no 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: Mice homozygous for the mutation die soon after birth. As early as embryonic day 15.5, the homozygous embryos show pronounced nuchal translucency. At E18.5, the embryos are alive but are swollen and exhibit hemorrhage at the tip of the tail and sometimes in other parts of the skin. The embryos display hypoplastic lymphatic vessels, immature collecting vessels, and a lack of valves in the dorsal skin, mesentery, and intestine. 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 positive for the knock-in allele were backcrossed to the C57BL/6J strain. The F1 generation was further backcrossed to the C57BL/6J strain eight times.
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	no
Homozygous viable	no
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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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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C57BL/6J-Tie1em1Kaali/Oulu