B6.129S4-Col18a1tm1Hms/Oulu

Status

Available to order

EMMA IDEM:11028
International strain nameB6.129S4-Col18a1tm1Hms/Oulu
Alternative nameCollagen XVIII knock-out mouse in C57BL/6J background
Strain typeTargeted Mutant Strains : Knock-out
Allele/Transgene symbolCol18a1tm1Hms
Gene/Transgene symbolCol18a1

Information from provider

ProviderBjorn R. Olsen
Provider affiliationHarvard School of Dental Medicine
Genetic informationA PGK/neo cassette replaces exons 17-38 of the endogenous locus. The insertion disrupts all variant forms from the locus.
Phenotypic informationHomozygous:
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 historyMice 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 fertileyes
Homozygous viableyes
Homozygous matings requiredno
Immunocompromisedno

Information from EMMA

Archiving centreUniversity of Oulu, Oulu, Finland

Disease and phenotype information

MGI allele-associated human disease models

Orphanet associated rare diseases, based on orthologous gene matching

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 (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
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/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

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  • Frozen embryos. Delivered in 4 weeks (after paperwork in place). €1740*
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Genotyping protocol

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(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.

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