B6.129S4-Col18a1^tm1Hms/Oulu

Status	Available to order
EMMA ID	EM:11028
International strain name	B6.129S4-Col18a1^tm1Hms/Oulu
Alternative name	Collagen XVIII knock-out mouse in C57BL/6J background
Strain type	Targeted Mutant Strains : Knock-out
Allele/Transgene symbol	Col18a1^tm1Hms,
Gene/Transgene symbol	Col18a1

Information from provider

Provider	Bjorn R. Olsen
Provider affiliation	Harvard School of Dental Medicine
Genetic information	A PGK/neo cassette replaces exons 17-38 of the endogenous locus. The insertion disrupts all variant forms from the locus.
Phenotypic information	Homozygous: Cardiovascular system: abnormal retinal vasculature morphology, abnormal tricuspid valve morphology, intracranial hemorrhage. Cellular: abnormal brain ependyma motile cilium morphology, abnormal basement membrane morphology. Craniofacial: abnormal cranium morphology, enlarged cranium. Homeostasis/metabolism: increased circulating creatinine level, increased circulating triglyceride level, increased circulating VLDL triglyceride level, abnormal enzyme/coenzyme level, abnormal circulating enzyme level, impaired lipolysis. Nervous system: intracranial hemorrhage, abnormal brain morphology, abnormal brain ependyma motile cilium morphology, hydroencephaly, enlarged brain ventricles, dilated fourth ventricle, dilated lateral ventricles, abnormal choroid plexus morphology, dilated third ventricle. Pigmentation: abnormal iris pigment epithelium, abnormal iris stromal pigmentation. Renal/urinary system: podocyte foot process effacement, abnormal renal glomerulus morphology, abnormal mesangial matrix morphology, expanded mesangial matrix, abnormal proximal convoluted tubule morphology. Skeleton: abnormal cranium morphology, enlarged cranium. Vision/eye: abnormal ciliary body morphology, abnormal iris morphology, abnormal iris pigment epithelium, abnormal iris stromal pigmentation, abnormal pupil morphology, abnormal corneal epithelium morphology, abnormal retina morphology, abnormal retinal vasculature morphology, abnormal vitreous body morphology, persistence of hyaloid vascular system. Heterozygous: Heterozygous mice are normal.
Breeding history	Mice were generated using 129S4/SvJae ES cells and backcrossed for at least 12 generations with C57BL/6J mice.
References	Lack of collagen XVIII/endostatin results in eye abnormalities.;Fukai Naomi, Eklund Lauri, Marneros Alexander G, Oh Suk Paul, Keene Douglas R, Tamarkin Lawrence, Niemelä Merja, Ilves Mika, Li En, Pihlajaniemi Taina, Olsen Bjorn R, ;2002;The EMBO journal;21;1535-44; 11927538 Target-derived matricryptins organize cerebellar synapse formation through α3β1 integrins.;Su Jianmin, Stenbjorn Renee S, Gorse Karen, Su Kaiwen, Hauser Kurt F, Ricard-Blum Sylvie, Pihlajaniemi Taina, Fox Michael A, ;2012;Cell reports;2;223-30; 22884367 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 Structurally altered basement membranes and hydrocephalus in a type XVIII collagen deficient mouse line.;Utriainen Aino, Sormunen Raija, Kettunen Mikko, Carvalhaes Lorenza S, Sajanti Esko, Eklund Lauri, Kauppinen Risto, Kitten Gregory T, Pihlajaniemi Taina, ;2004;Human molecular genetics;13;2089-99; 15254016 Age-dependent iris abnormalities in collagen XVIII/endostatin deficient mice with similarities to human pigment dispersion syndrome.;Marneros Alexander G, Olsen Bjorn R, ;2003;Investigative ophthalmology & visual science;44;2367-72; 12766032 Lack of type XVIII collagen results in anterior ocular defects.;Ylikärppä Ritva, Eklund Lauri, Sormunen Raija, Kontiola Antti I, Utriainen Aino, Määttä Marko, Fukai Naomi, Olsen Björn R, Pihlajaniemi Taina, ;2003;FASEB journal : official publication of the Federation of American Societies for Experimental Biology;17;2257-9; 14525950 Lack of collagen XVIII accelerates cutaneous wound healing, while overexpression of its endostatin domain leads to delayed healing.;Seppinen Lotta, Sormunen Raija, Soini Ylermi, Elamaa Harri, Heljasvaara Ritva, Pihlajaniemi Taina, ;2008;Matrix biology : journal of the International Society for Matrix Biology;27;535-46; 18455382 Deletion of the basement membrane heparan sulfate proteoglycan type XVIII collagen causes hypertriglyceridemia in mice and humans.;Bishop Joseph R, Passos-Bueno Maria Rita, Fong Loren, Stanford Kristin I, Gonzales Jon C, Yeh Erika, Young Stephen G, Bensadoun Andre, Witztum Joseph L, Esko Jeffrey D, Moulton Karen S, ;2010;PloS one;5;e13919; 21085708 Lack of collagen XVIII/endostatin exacerbates immune-mediated glomerulonephritis.;Hamano Yuki, Okude Takashi, Shirai Ryota, Sato Ikumi, Kimura Ryota, Ogawa Makoto, Ueda Yoshihiko, Yokosuka Osamu, Kalluri Raghu, Ueda Shiro, ;2010;Journal of the American Society of Nephrology : JASN;21;1445-55; 20616167 Collagen XVIII/endostatin is essential for vision and retinal pigment epithelial function.;Marneros Alexander G, Keene Douglas R, Hansen Uwe, Fukai Naomi, Moulton Karen, Goletz Patrice L, Moiseyev Gennadiy, Pawlyk Basil S, Halfter Willi, Dong Sucai, Shibata Masao, Li Tiansen, Crouch Rosalie K, Bruckner Peter, Olsen Bjorn R, ;2004;The EMBO journal;23;89-99; 14685281
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

MGI allele-associated human disease models

pigment dispersion syndrome / DOID:0060680

Orphanet associated rare diseases, based on orthologous gene matching

Knobloch syndrome / Orphanet_1571

MGI phenotypes (allele matching)

abnormal pupil morphology / MGI
abnormal iris morphology / MGI
abnormal retina morphology / MGI
increased circulating triglyceride level / MGI
abnormal circulating enzyme level / MGI
neoplasm / MGI
abnormal retinal vasculature morphology / MGI
increased circulating VLDL triglyceride level / 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
abnormal corneal epithelium morphology / MGI
impaired lipolysis / MGI
podocyte foot process effacement / MGI
persistence of hyaloid vascular system / MGI
abnormal vitreous body morphology / MGI
abnormal basement membrane morphology / MGI
abnormal cranium morphology / MGI
enlarged cranium / MGI
abnormal choroid plexus morphology / MGI
dilated lateral ventricles / MGI
dilated third ventricle / MGI
dilated fourth ventricle / MGI
hydroencephaly / MGI
intracranial hemorrhage / MGI
abnormal brain morphology / MGI
abnormal tricuspid valve morphology / MGI
increased circulating creatinine level / 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/endostatin results in eye abnormalities.;Fukai Naomi, Eklund Lauri, Marneros Alexander G, Oh Suk Paul, Keene Douglas R, Tamarkin Lawrence, Niemelä Merja, Ilves Mika, Li En, Pihlajaniemi Taina, Olsen Bjorn R, ;2002;The EMBO journal;21;1535-44; 11927538
Target-derived matricryptins organize cerebellar synapse formation through α3β1 integrins.;Su Jianmin, Stenbjorn Renee S, Gorse Karen, Su Kaiwen, Hauser Kurt F, Ricard-Blum Sylvie, Pihlajaniemi Taina, Fox Michael A, ;2012;Cell reports;2;223-30; 22884367
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
Structurally altered basement membranes and hydrocephalus in a type XVIII collagen deficient mouse line.;Utriainen Aino, Sormunen Raija, Kettunen Mikko, Carvalhaes Lorenza S, Sajanti Esko, Eklund Lauri, Kauppinen Risto, Kitten Gregory T, Pihlajaniemi Taina, ;2004;Human molecular genetics;13;2089-99; 15254016
Age-dependent iris abnormalities in collagen XVIII/endostatin deficient mice with similarities to human pigment dispersion syndrome.;Marneros Alexander G, Olsen Bjorn R, ;2003;Investigative ophthalmology & visual science;44;2367-72; 12766032
Lack of type XVIII collagen results in anterior ocular defects.;Ylikärppä Ritva, Eklund Lauri, Sormunen Raija, Kontiola Antti I, Utriainen Aino, Määttä Marko, Fukai Naomi, Olsen Björn R, Pihlajaniemi Taina, ;2003;FASEB journal : official publication of the Federation of American Societies for Experimental Biology;17;2257-9; 14525950
Lack of collagen XVIII accelerates cutaneous wound healing, while overexpression of its endostatin domain leads to delayed healing.;Seppinen Lotta, Sormunen Raija, Soini Ylermi, Elamaa Harri, Heljasvaara Ritva, Pihlajaniemi Taina, ;2008;Matrix biology : journal of the International Society for Matrix Biology;27;535-46; 18455382
Deletion of the basement membrane heparan sulfate proteoglycan type XVIII collagen causes hypertriglyceridemia in mice and humans.;Bishop Joseph R, Passos-Bueno Maria Rita, Fong Loren, Stanford Kristin I, Gonzales Jon C, Yeh Erika, Young Stephen G, Bensadoun Andre, Witztum Joseph L, Esko Jeffrey D, Moulton Karen S, ;2010;PloS one;5;e13919; 21085708
Lack of collagen XVIII/endostatin exacerbates immune-mediated glomerulonephritis.;Hamano Yuki, Okude Takashi, Shirai Ryota, Sato Ikumi, Kimura Ryota, Ogawa Makoto, Ueda Yoshihiko, Yokosuka Osamu, Kalluri Raghu, Ueda Shiro, ;2010;Journal of the American Society of Nephrology : JASN;21;1445-55; 20616167
Collagen XVIII/endostatin is essential for vision and retinal pigment epithelial function.;Marneros Alexander G, Keene Douglas R, Hansen Uwe, Fukai Naomi, Moulton Karen, Goletz Patrice L, Moiseyev Gennadiy, Pawlyk Basil S, Halfter Willi, Dong Sucai, Shibata Masao, Li Tiansen, Crouch Rosalie K, Bruckner Peter, Olsen Bjorn R, ;2004;The EMBO journal;23;89-99; 14685281

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^*

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

Other EMMA strains

Not found what you were looking for? Search here for other strains available from EMMA.

B6.129S4-Col18a1tm1Hms/Oulu