- 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
BOla.AK-Gpi1a Tyrc/Gpi1b +/WsH
| Status | Available to order |
| EMMA ID | EM:02607 |
| Citation information | RRID:IMSR_EM:02607 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 | BOla.AK-Gpi1a Tyrc/Gpi1b +/WsH |
| Alternative name | C57BL/Ola.AKR-Gpi1-sa,c/Ws |
| Strain type | Other |
| Allele/Transgene symbol | Gpi1a, Gpi1b, Tyrc |
| Gene/Transgene symbol | Gpi1, Gpi1, Tyr |
Information from provider
| Provider | John West |
| Provider affiliation | Genes and Development Group, University of Edinburgh |
| Genetic information | Unpigmented and electrophoretic variant. |
| Phenotypic information | Unpigmented (albino) and electrophoretic variant of Gpi1-sa. |
| Breeding history | Congenic on C57BL/6Ola. |
| References |
|
| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | not known |
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
- 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)
MGI phenotypes (gene matching)
- decreased hematocrit / MGI
- decreased body weight / MGI
- prenatal lethality / MGI
- abnormal embryonic tissue morphology / MGI
- abnormal erythrocyte morphology / MGI
- increased mean corpuscular volume / MGI
- reticulocytosis / MGI
- increased heart weight / MGI
- decreased erythrocyte cell number / MGI
- increased liver weight / MGI
- abnormal erythrocyte physiology / MGI
- abnormal erythrocyte osmotic lysis / MGI
- increased spleen weight / MGI
- increased circulating bilirubin level / MGI
- increased circulating glucose level / MGI
- decreased mean corpuscular hemoglobin / MGI
- abnormal enzyme/coenzyme activity / MGI
- increased lung weight / MGI
- decreased mean corpuscular hemoglobin concentration / MGI
- lethality, incomplete penetrance / MGI
- postnatal lethality, incomplete penetrance / MGI
- prenatal lethality, complete penetrance / MGI
- embryonic lethality, complete penetrance / MGI
- embryonic lethality between implantation and placentation, complete penetrance / MGI
- preweaning lethality, complete penetrance / 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
- Genetic control of two electrophoretic variants of glucosephosphate isomerase in the mouse (Mus musculus).;DeLorenzo R J, Ruddle F H, ;1969;Biochemical genetics;3;151-62; 5364923
- Genetic differences in glucose phosphate isomerase activity among mouse embryos.;West J D, Flockhart J H, ;1989;Development (Cambridge, England);107;465-72; 2612373
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