STOCK Tmem98^Rwhs/H

Status	Available to order
EMMA ID	EM:01908
Citation information	RRID:IMSR_EM:01908 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	STOCK Tmem98^Rwhs/H
Alternative name	Retinal White Spots
Strain type	Induced Mutant Strains : Chemically-induced
Allele/Transgene symbol	Pde6b^rd1-2H, Rwhs, Tyr^c
Gene/Transgene symbol	Pde6b, Tmem98, Tyr

Information from provider

Provider	Dr Mary Lyon
Provider affiliation	MRC Harwell, Didcot, Oxon
Phenotypic information	From 1 month of age white spots appear on the retina. They do not appear to reduce vision. The phenotype may not be fully penetrant and/or can be late onset.
References	Novel ENU-induced eye mutations in the mouse: models for human eye disease.;Thaung Caroline, West Katrine, Clark Brian J, McKie Lisa, Morgan Joanne E, Arnold Karen, Nolan Patrick M, Peters Jo, Hunter A Jackie, Brown Steve D M, Jackson Ian J, Cross Sally H, ;2002;Human molecular genetics;11;755-67; 11929848

Information from EMMA

Archiving centre	Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

Retinitis pigmentosa / Orphanet_791
Congenital stationary night blindness / Orphanet_215
Nanophthalmos / Orphanet_35612
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

IMPC phenotypes (gene matching)

abnormal whole-body plethysmography / IMPC
decreased circulating amylase level / IMPC
atrophy / IMPC
decreased defecation amount / IMPC
decreased body weight / IMPC
abnormal heart morphology / IMPC
increased cellular hemoglobin content / IMPC
decreased circulating triglyceride level / IMPC
decreased body temperature / IMPC
increased circulating potassium level / IMPC
increased mean corpuscular volume / IMPC
decreased locomotor activity / IMPC
increased blood uric acid level / IMPC
increased mean corpuscular hemoglobin concentration / IMPC
preweaning lethality, complete penetrance / IMPC
enlarged heart / IMPC

MGI phenotypes (allele matching)

retinal degeneration / MGI
disorganized retinal layers / MGI
retinal spots / MGI
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 retinal rod cell morphology / MGI
abnormal retina morphology / MGI
retinal degeneration / MGI
decreased retinal photoreceptor cell number / MGI
blindness / MGI
abnormal retinal vasculature morphology / MGI
abnormal ocular fundus morphology / MGI
abnormal photoreceptor outer segment morphology / MGI
abnormal retinal outer nuclear layer morphology / MGI
abnormal rod electrophysiology / MGI
abnormal cone electrophysiology / MGI
vision/eye phenotype / MGI
abnormal Muller cell morphology / MGI
abnormal eye electrophysiology / MGI
decreased visual acuity / MGI
impaired pupillary reflex / MGI
abnormal optic disk morphology / MGI
retinal photoreceptor degeneration / MGI
retinal rod cell degeneration / MGI
absent retinal rod cells / MGI
thin retinal outer nuclear layer / MGI
retinal outer nuclear layer degeneration / MGI
absent photoreceptor outer segment / MGI
abnormal retinal blood vessel morphology / MGI
decreased total retina thickness / MGI
decreased body weight / MGI
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

Novel ENU-induced eye mutations in the mouse: models for human eye disease.;Thaung Caroline, West Katrine, Clark Brian J, McKie Lisa, Morgan Joanne E, Arnold Karen, Nolan Patrick M, Peters Jo, Hunter A Jackie, Brown Steve D M, Jackson Ian J, Cross Sally H, ;2002;Human molecular genetics;11;755-67; 11929848

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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^*
Rederivation of mice from frozen stock, delivery time available upon request . €3880^*
Tissue - Types of tissue, service fee and delivery time available upon request

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.

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STOCK Tmem98Rwhs/H