B6NCrl.Cg-Col18a1^tm2Pih/Oulu

Status	Available to order
EMMA ID	EM:15979
Citation information	RRID:IMSR_EM:15979 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	B6NCrl.Cg-Col18a1^tm2Pih/Oulu
Alternative name	Col18a1tm2Pih; Col18a1-P2; MGI:4948125
Strain type	Targeted Mutant Strains : Other targeted
Allele/Transgene symbol	Col18a1^tm2Pih
Gene/Transgene symbol	Col18a1

Information from provider

Provider	Taina Pihlajaniemi
Provider affiliation	Faculty of Biochemistry and Molecular Medicine, University of Oulu
Genetic information	Exon 3 of Col18a1 was inactivated to form a promoter 2 (P2)-specific knock-out mouse in which the medium and long collagen XVIII isoforms are inactivated while the short promoter 1 (P1)-directed isoform is expressed.
Phenotypic information	Homozygous: All organs of the homozygous Col18a1-P2/P2 C57BL/6 mice have not been studied. Metabolism (liver, adipose tissue, serum): Reduced adiposity, hepatic steatosis, hypertriglyceridemia, insulin resistance, glucose intolerance. Renal/urinary system: Kidney development was studied in embryos and newborn mice. Reduced ureter tree branching and renal hypoplasia. Malformed podocyte foot processes and lack of regular filtration slits. In adult mouse kidneys, lack of collagen XVIII P2-directed medium and long isoforms leads to podocyte effacement and reduced stiffness of the kidney glomeruli. Heterozygous: Heterozygous mice are normal.
Breeding history	Gene targeting was performed in 129/Sv embryonic stem cells and the resulting mice were backcrossed at least 10 times to a C57BL/6JOlaHsd background and further to C57BL/6NCrl background for 12 generations.
References	Lack of collagen XVIII long isoforms affects kidney podocytes, whereas the short form is needed in the proximal tubular basement membrane.;Kinnunen Aino I, Sormunen Raija, Elamaa Harri, Seppinen Lotta, Miller R Tyler, Ninomiya Yoshifumi, Janmey Paul A, Pihlajaniemi Taina, ;2011;The Journal of biological chemistry;286;7755-7764; 21193414 Lack of collagen XVIII leads to lipodystrophy and perturbs hepatic glucose and lipid homeostasis.;Petäistö Tiina, Vicente David, Mäkelä Kari A, Finnilä Mikko A, Miinalainen Ilkka, Koivunen Jarkko, Izzi Valerio, Aikio Mari, Karppinen Sanna-Maria, Devarajan Raman, Thevenot Jerome, Herzig Karl-Heinz, Heljasvaara Ritva, Pihlajaniemi Taina, ;2020;The Journal of physiology;598;3373-3393; 32449518 Temporally and spatially regulated collagen XVIII isoforms are involved in ureteric tree development via the TSP1-like domain.;Rinta-Jaskari Mia M, Naillat Florence, Ruotsalainen Heli J, Koivunen Jarkko T, Sasaki Takako, Pietilä Ilkka, Elamaa Harri P, Kaur Inderjeet, Manninen Aki, Vainio Seppo J, Pihlajaniemi Taina A, ;2023;Matrix biology : journal of the International Society for Matrix Biology;115;139-159; 36623578 Collagen XVIII regulates extracellular matrix integrity in the developing nephrons and impacts nephron progenitor cell behavior.;Rinta-Jaskari Mia M, Naillat Florence, Ruotsalainen Heli J, Ronkainen Veli-Pekka, Heljasvaara Ritva, Akram Saad U, Izzi Valerio, Miinalainen Ilkka, Vainio Seppo J, Pihlajaniemi Taina A, ;2024;Matrix biology : journal of the International Society for Matrix Biology;131;30-45; 38788809 Specific collagen XVIII isoforms promote adipose tissue accrual via mechanisms determining adipocyte number and affect fat deposition.;Aikio Mari, Elamaa Harri, Vicente David, Izzi Valerio, Kaur Inderjeet, Seppinen Lotta, Speedy Helen E, Kaminska Dorota, Kuusisto Sanna, Sormunen Raija, Heljasvaara Ritva, Jones Emma L, Muilu Mikko, Jauhiainen Matti, Pihlajamäki Jussi, Savolainen Markku J, Shoulders Carol C, Pihlajaniemi Taina, ;2014;Proceedings of the National Academy of Sciences of the United States of America;111;E3043-52; 25024173
Homozygous fertile	yes
Homozygous viable	yes
Homozygous matings required	no
Immunocompromised	no

Information from EMMA

Archiving centre	University of Oulu, Oulu, Finland

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

Knobloch syndrome / Orphanet_1571

IMPC phenotypes (gene matching)

abnormal retina vasculature morphology / IMPC
abnormal optic disk morphology / IMPC
increased vertical activity / IMPC
abnormal placement of pupils / IMPC
decreased circulating HDL cholesterol level / IMPC
abnormal lens morphology / IMPC
increased circulating free fatty acids level / IMPC
abnormal retina blood vessel morphology / IMPC
decreased circulating glucose level / IMPC
hyperactivity / IMPC
increased circulating triglyceride level / IMPC
irregularly shaped pupil / IMPC
abnormal iris pigmentation / IMPC
abnormal retina morphology / IMPC
increased fasting circulating glucose level / IMPC

MGI phenotypes (gene matching)

abnormal cranium morphology / MGI
enlarged cranium / MGI
abnormal choroid plexus morphology / MGI
dilated lateral ventricles / MGI
dilated third ventricle / MGI
dilated fourth ventricle / MGI
persistence of hyaloid vascular system / MGI
abnormal pupil morphology / MGI
abnormal iris morphology / MGI
abnormal retina morphology / MGI
increased circulating triglyceride level / MGI
abnormal circulating enzyme level / MGI
hydroencephaly / MGI
intracranial hemorrhage / MGI
neoplasm / MGI
abnormal brain morphology / MGI
abnormal tricuspid valve morphology / MGI
abnormal vitreous body morphology / MGI
abnormal retinal vasculature morphology / MGI
increased circulating VLDL triglyceride level / MGI
abnormal basement membrane morphology / MGI
abnormal proximal convoluted tubule morphology / MGI
abnormal ciliary body morphology / MGI
abnormal iris pigment epithelium / MGI
abnormal enzyme/coenzyme level / MGI
abnormal renal glomerulus morphology / MGI
renal/urinary system phenotype / MGI
abnormal iris stromal pigmentation / MGI
increased circulating creatinine level / MGI
abnormal corneal epithelium morphology / MGI
impaired lipolysis / MGI
podocyte foot process effacement / MGI
abnormal brain ependyma motile cilium morphology / MGI
abnormal mesangial matrix morphology / MGI
expanded mesangial matrix / MGI
enlarged brain ventricles / MGI

Literature references

Lack of collagen XVIII long isoforms affects kidney podocytes, whereas the short form is needed in the proximal tubular basement membrane.;Kinnunen Aino I, Sormunen Raija, Elamaa Harri, Seppinen Lotta, Miller R Tyler, Ninomiya Yoshifumi, Janmey Paul A, Pihlajaniemi Taina, ;2011;The Journal of biological chemistry;286;7755-7764; 21193414
Lack of collagen XVIII leads to lipodystrophy and perturbs hepatic glucose and lipid homeostasis.;Petäistö Tiina, Vicente David, Mäkelä Kari A, Finnilä Mikko A, Miinalainen Ilkka, Koivunen Jarkko, Izzi Valerio, Aikio Mari, Karppinen Sanna-Maria, Devarajan Raman, Thevenot Jerome, Herzig Karl-Heinz, Heljasvaara Ritva, Pihlajaniemi Taina, ;2020;The Journal of physiology;598;3373-3393; 32449518
Temporally and spatially regulated collagen XVIII isoforms are involved in ureteric tree development via the TSP1-like domain.;Rinta-Jaskari Mia M, Naillat Florence, Ruotsalainen Heli J, Koivunen Jarkko T, Sasaki Takako, Pietilä Ilkka, Elamaa Harri P, Kaur Inderjeet, Manninen Aki, Vainio Seppo J, Pihlajaniemi Taina A, ;2023;Matrix biology : journal of the International Society for Matrix Biology;115;139-159; 36623578
Collagen XVIII regulates extracellular matrix integrity in the developing nephrons and impacts nephron progenitor cell behavior.;Rinta-Jaskari Mia M, Naillat Florence, Ruotsalainen Heli J, Ronkainen Veli-Pekka, Heljasvaara Ritva, Akram Saad U, Izzi Valerio, Miinalainen Ilkka, Vainio Seppo J, Pihlajaniemi Taina A, ;2024;Matrix biology : journal of the International Society for Matrix Biology;131;30-45; 38788809
Specific collagen XVIII isoforms promote adipose tissue accrual via mechanisms determining adipocyte number and affect fat deposition.;Aikio Mari, Elamaa Harri, Vicente David, Izzi Valerio, Kaur Inderjeet, Seppinen Lotta, Speedy Helen E, Kaminska Dorota, Kuusisto Sanna, Sormunen Raija, Heljasvaara Ritva, Jones Emma L, Muilu Mikko, Jauhiainen Matti, Pihlajamäki Jussi, Savolainen Markku J, Shoulders Carol C, Pihlajaniemi Taina, ;2014;Proceedings of the National Academy of Sciences of the United States of America;111;E3043-52; 25024173

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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

Genotyping protocol

Example health report
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Material Transfer Agreement (MTA)
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B6NCrl.Cg-Col18a1tm2Pih/Oulu