STOCK Tyr^c Gpr143^tm1Inc/Cnbc

Status	Available to order
EMMA ID	EM:06085
International strain name	STOCK Tyr^c Gpr143^tm1Inc/Cnbc
Alternative name	HsdWin:NMRI;B6N.129-Gpr143/Cnbc
Strain type	Spontaneous
Allele/Transgene symbol	Tyr^c,
Gene/Transgene symbol	Tyr

Information from provider

Provider	Enrico Maria Surace
Provider affiliation	TIGEM (Telethon Institute of Genetics and Medicine)
Genetic information	The 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 information	Currently 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 history	Mutant 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 fertile	yes
Homozygous viable	yes
Homozygous matings required	no
Immunocompromised	no

Information from EMMA

Archiving centre	CNB-CSIC, Centro Nacional de Biotecnologia, Madrid, Spain

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

X-linked recessive ocular albinism / Orphanet_54
Temperature-sensitive oculocutaneous albinism type 1 / Orphanet_352737
Oculocutaneous albinism type 1A / Orphanet_79431
Oculocutaneous albinism type 1B / Orphanet_79434
Minimal pigment oculocutaneous albinism type 1 / Orphanet_352734
Ocular albinism with congenital sensorineural deafness / Orphanet_352740

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

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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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).

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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

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STOCK Tyrc Gpr143tm1Inc/Cnbc