STOCK Tyrc Gpr143tm1Inc/Cnbc

Status

Available to order

EMMA IDEM:06085
International strain nameSTOCK Tyrc Gpr143tm1Inc/Cnbc
Alternative nameHsdWin:NMRI;B6N.129-Gpr143/Cnbc
Strain typeTargeted Mutant Strains : Knock-out
Allele/Transgene symbolGpr143tm1Inc, Tyrc
Gene/Transgene symbolGpr143, Tyr

Information from provider

ProviderEnrico Maria Surace
Provider affiliationTIGEM (Telethon Institute of Genetics and Medicine)
Genetic informationThe inactivation of the Gpr143 gene (Oa1 gene) was done at TIGEM in AB2.2 ES cells, replacing the first exon by a HPRT cassette. Resulting chimeras were backcrossed 10 times to C57BL/6N mice and, upon transferring these mice to CNB-CSIC they have been backcrossed less than 5 times to albino outbred NMRI mice.
Phenotypic informationCurrently Oa1-deficient mice (Gpr143 gene inactivated) are in tyrosinase-deficient mice, therefore they display in one animal the traits associated to Ocular Albinism type I (OA1) and Oculo-Cutaneous Albinism type I (OCA1), including severe visual deficits and presence of abnormal giant melanosomes in retinal pigment epithelium cells.
Breeding historyMutant was created in AB2.2 ES cell background and resulting chimeras backcrossed 10 times to C57BL/6N. Mice were then transferred to CNB-CSIC where they have been backcrossed less than 5 times to albino outbred HsdWin:NMRI Stock.
References
  • Oa1 knock-out: new insights on the pathogenesis of ocular albinism type 1.;Incerti B, Cortese K, Pizzigoni A, Surace E M, Varani S, Coppola M, Jeffery G, Seeliger M, Jaissle G, Bennett D C, Marigo V, Schiaffino M V, Tacchetti C, Ballabio A, ;2000;Human molecular genetics;9;2781-8; 11092754
  • Expression pattern of the ocular albinism type 1 (Oa1) gene in the murine retinal pigment epithelium.;Surace E M, Angeletti B, Ballabio A, Marigo V, ;2000;Investigative ophthalmology & visual science;41;4333-7; 11095635
  • Amelioration of both functional and morphological abnormalities in the retina of a mouse model of ocular albinism following AAV-mediated gene transfer.;Surace Enrico Maria, Domenici Luciano, Cortese Katia, Cotugno Gabriella, Di Vicino Umberto, Venturi Consuelo, Cellerino Alessandro, Marigo Valeria, Tacchetti Carlo, Ballabio Andrea, Auricchio Alberto, ;2005;Molecular therapy : the journal of the American Society of Gene Therapy;12;652-8; 16023414
  • The ocular albinism type 1 (OA1) gene controls melanosome maturation and size.;Cortese Katia, Giordano Francesca, Surace Enrico M, Venturi Consuelo, Ballabio Andrea, Tacchetti Carlo, Marigo Valeria, ;2005;Investigative ophthalmology & visual science;46;4358-64; 16303920
  • The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells.;Palmisano Ilaria, Bagnato Paola, Palmigiano Angela, Innamorati Giulio, Rotondo Giuseppe, Altimare Domenico, Venturi Consuelo, Sviderskaya Elena V, Piccirillo Rosanna, Coppola Massimiliano, Marigo Valeria, Incerti Barbara, Ballabio Andrea, Surace Enrico M, Tacchetti Carlo, Bennett Dorothy C, Schiaffino Maria Vittoria, ;2008;Human molecular genetics;17;3487-501; 18697795
  • The ocular albinism type 1 (OA1) G-protein-coupled receptor functions with MART-1 at early stages of melanogenesis to control melanosome identity and composition.;Giordano Francesca, Bonetti Ciro, Surace Enrico M, Marigo Valeria, Raposo Graça, ;2009;Human molecular genetics;18;4530-45; 19717472
Homozygous fertileyes
Homozygous viableyes
Homozygous matings requiredno
Immunocompromisedno

Information from EMMA

Archiving centreCNB-CSIC, Centro Nacional de Biotecnologia, Madrid, Spain

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

MGI phenotypes (allele matching)
  • absent coat pigmentation / MGI
  • diluted coat color / MGI
  • abnormal coat/hair pigmentation / MGI
  • absent eye pigmentation / MGI
  • abnormal coat appearance / MGI
  • decreased eye pigmentation / MGI
  • mottled coat / MGI
  • abnormal eye pigmentation / MGI
  • belly spot / MGI
  • hypopigmentation / MGI
  • variegated eye pigmentation pattern / MGI
  • decreased ear pigmentation / MGI
MGI phenotypes (gene matching)
  • abnormal cell morphology / MGI
  • diluted coat color / MGI
  • irregular coat pigmentation / MGI
  • belly spot / MGI
  • absent hair follicle melanin granules / MGI
  • shiny fur / MGI
  • mottled coat / MGI
  • abnormal retinal photoreceptor morphology / MGI
  • pigmentation phenotype / MGI
  • absent skin pigmentation / MGI
  • abnormal keratinocyte apoptosis / MGI
  • abnormal eye pigmentation / MGI
  • abnormal retina morphology / MGI
  • retinal degeneration / MGI
  • decreased retinal photoreceptor cell number / MGI
  • abnormal coat appearance / MGI
  • male infertility / MGI
  • abnormal coat/hair pigmentation / MGI
  • prenatal lethality / MGI
  • premature death / MGI
  • abnormal vision / MGI
  • abnormal skin pigmentation / MGI
  • no abnormal phenotype detected / MGI
  • no phenotypic analysis / MGI
  • abnormal cell nucleus morphology / MGI
  • failure of zygotic cell division / MGI
  • single kidney / MGI
  • absent seminal vesicle / MGI
  • abnormal chromosome morphology / MGI
  • chromosome breakage / MGI
  • induced chromosome breakage / MGI
  • increased cellular sensitivity to ionizing radiation / MGI
  • abnormal miscarriage rate / MGI
  • abnormal hair follicle melanogenesis / MGI
  • abnormal melanosome morphology / MGI
  • abnormal iris pigmentation / MGI
  • absent coat pigmentation / MGI
  • decreased eye pigmentation / MGI
  • abnormal aqueous drainage system morphology / MGI
  • abnormal retinal ganglion layer morphology / MGI
  • abnormal eye physiology / MGI
  • abnormal intraocular pressure / MGI
  • variegated coat color / MGI
  • homeostasis/metabolism phenotype / MGI
  • reproductive system phenotype / MGI
  • vision/eye phenotype / MGI
  • hypopigmentation / MGI
  • ocular albinism / MGI
  • absent eye pigmentation / MGI
  • decreased survivor rate / MGI
  • transverse fur striping / MGI
  • mortality/aging / MGI
  • abnormal survival / MGI
  • integument phenotype / MGI
  • neonatal lethality, complete penetrance / MGI
  • perinatal lethality, complete penetrance / MGI
  • prenatal lethality, complete penetrance / MGI
  • embryonic lethality, complete penetrance / MGI
  • embryonic lethality at implantation, complete penetrance / MGI
  • embryonic lethality before implantation, complete penetrance / MGI
  • decreased ear pigmentation / MGI
  • variegated eye pigmentation pattern / MGI
  • decreased a wave amplitude / MGI
  • decreased b wave amplitude / MGI

Literature references

  • Oa1 knock-out: new insights on the pathogenesis of ocular albinism type 1.;Incerti B, Cortese K, Pizzigoni A, Surace E M, Varani S, Coppola M, Jeffery G, Seeliger M, Jaissle G, Bennett D C, Marigo V, Schiaffino M V, Tacchetti C, Ballabio A, ;2000;Human molecular genetics;9;2781-8; 11092754
  • Expression pattern of the ocular albinism type 1 (Oa1) gene in the murine retinal pigment epithelium.;Surace E M, Angeletti B, Ballabio A, Marigo V, ;2000;Investigative ophthalmology & visual science;41;4333-7; 11095635
  • Amelioration of both functional and morphological abnormalities in the retina of a mouse model of ocular albinism following AAV-mediated gene transfer.;Surace Enrico Maria, Domenici Luciano, Cortese Katia, Cotugno Gabriella, Di Vicino Umberto, Venturi Consuelo, Cellerino Alessandro, Marigo Valeria, Tacchetti Carlo, Ballabio Andrea, Auricchio Alberto, ;2005;Molecular therapy : the journal of the American Society of Gene Therapy;12;652-8; 16023414
  • The ocular albinism type 1 (OA1) gene controls melanosome maturation and size.;Cortese Katia, Giordano Francesca, Surace Enrico M, Venturi Consuelo, Ballabio Andrea, Tacchetti Carlo, Marigo Valeria, ;2005;Investigative ophthalmology & visual science;46;4358-64; 16303920
  • The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells.;Palmisano Ilaria, Bagnato Paola, Palmigiano Angela, Innamorati Giulio, Rotondo Giuseppe, Altimare Domenico, Venturi Consuelo, Sviderskaya Elena V, Piccirillo Rosanna, Coppola Massimiliano, Marigo Valeria, Incerti Barbara, Ballabio Andrea, Surace Enrico M, Tacchetti Carlo, Bennett Dorothy C, Schiaffino Maria Vittoria, ;2008;Human molecular genetics;17;3487-501; 18697795
  • The ocular albinism type 1 (OA1) G-protein-coupled receptor functions with MART-1 at early stages of melanogenesis to control melanosome identity and composition.;Giordano Francesca, Bonetti Ciro, Surace Enrico M, Marigo Valeria, Raposo Graça, ;2009;Human molecular genetics;18;4530-45; 19717472

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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*

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