MGI phenotypes (allele matching)
STOCK MitfRorp/H
| Status | Available to order |
| EMMA ID | EM:00439 |
| International strain name | STOCK MitfRorp/H |
| Alternative name | GENA336 |
| Strain type | Induced Mutant Strains : Chemically-induced |
| Allele/Transgene symbol | MitfRorp |
| Gene/Transgene symbol | Mitf |
Information from provider
| Provider | Mary Lyon |
| Provider affiliation | MRC Mammalian Genetics Unit |
| Phenotypic information | Mice heterozygous for MitfRorp have a diluted coat colour and retinal orange patches. Homozygotes are white with dark eyes. |
| References | None available |
Information from EMMA
| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Disease and phenotype information
MGI allele-associated human disease models
Orphanet associated rare diseases, based on orthologous gene matching
- Tietz syndrome / Orphanet_42665
- Ocular albinism with congenital sensorineural deafness / Orphanet_352740
- Waardenburg syndrome type 2 / Orphanet_895
- Waardenburg-Shah syndrome / Orphanet_897
MGI phenotypes (gene matching)
- abnormal inner ear morphology / MGI
- abnormal cochlea morphology / MGI
- abnormal stria vascularis morphology / MGI
- osteopetrosis / MGI
- failure of tooth eruption / MGI
- abnormal long bone metaphysis morphology / MGI
- decreased mast cell number / MGI
- diluted coat color / MGI
- irregular coat pigmentation / MGI
- belly spot / MGI
- abnormal hair follicle morphology / MGI
- abnormal spleen morphology / MGI
- abnormal retinal photoreceptor morphology / MGI
- pigmentation phenotype / MGI
- absent skin pigmentation / MGI
- decreased body size / MGI
- abnormal eye development / MGI
- anophthalmia / MGI
- microphthalmia / MGI
- abnormal lens morphology / MGI
- cataract / MGI
- abnormal iris morphology / MGI
- abnormal eye pigmentation / MGI
- abnormal retina morphology / MGI
- retinal degeneration / MGI
- absent optic nerve / MGI
- abnormal eyelid morphology / MGI
- abnormal nursing / MGI
- abnormal pinna reflex / MGI
- abnormal osteoclast physiology / MGI
- reduced fertility / MGI
- male infertility / MGI
- female infertility / MGI
- abnormal estrous cycle / MGI
- decreased litter size / MGI
- abnormal hearing physiology / MGI
- abnormal coat/hair pigmentation / MGI
- postnatal lethality / MGI
- premature death / MGI
- abnormal eye morphology / MGI
- abnormal skin pigmentation / MGI
- abnormal fertility/fecundity / MGI
- no abnormal phenotype detected / MGI
- abnormal spleen red pulp morphology / MGI
- abnormal spleen white pulp morphology / MGI
- abnormal spleen germinal center morphology / MGI
- abnormal mast cell physiology / MGI
- mydriasis / MGI
- abnormal cochlear hair cell morphology / MGI
- abnormal eye size / MGI
- abnormal vitreous body morphology / MGI
- abnormal ocular fundus morphology / MGI
- abnormal melanocyte morphology / MGI
- white spotting / MGI
- head spot / MGI
- variable body spotting / MGI
- no phenotypic analysis / MGI
- abnormal long bone epiphyseal plate morphology / MGI
- retinal detachment / MGI
- yellow coat color / MGI
- abnormal scala media morphology / MGI
- phenotypic reversion / MGI
- increased width of hypertrophic chondrocyte zone / MGI
- abnormal photoreceptor inner segment morphology / MGI
- abnormal Harderian gland pigmentation / MGI
- abnormal rod electrophysiology / MGI
- fetal growth retardation / MGI
- abnormal optic stalk morphology / MGI
- abnormal optic cup morphology / MGI
- thin stria vascularis / MGI
- abnormal hair follicle melanocyte morphology / MGI
- decreased length of long bones / MGI
- abnormal osteoclast morphology / MGI
- increased osteoclast cell number / MGI
- decreased osteoclast cell number / MGI
- abnormal optic choroid morphology / MGI
- abnormal ciliary body morphology / MGI
- abnormal choroid pigmentation / MGI
- abnormal iris pigmentation / MGI
- abnormal retinal pigmentation / MGI
- absent coat pigmentation / MGI
- decreased eye pigmentation / MGI
- non-pigmented tail tip / MGI
- eyelids fail to open / MGI
- abnormal posterior eye segment morphology / MGI
- abnormal retinal pigment epithelium morphology / MGI
- abnormal eye physiology / MGI
- coloboma / MGI
- abnormal incisor morphology / MGI
- abnormal Langerhans cell physiology / MGI
- variegated coat color / MGI
- skeleton phenotype / MGI
- vision/eye phenotype / MGI
- hypopigmentation / MGI
- darkened coat color / MGI
- osteosclerosis / MGI
- abnormal skeleton morphology / MGI
- abnormal iris stromal pigmentation / MGI
- decreased bleeding time / MGI
- absent strial intermediate cells / MGI
- abnormal retinal neuronal layer morphology / MGI
- abnormal vestibular saccule morphology / MGI
- ocular albinism / MGI
- iris hypoplasia / MGI
- impaired pupillary reflex / MGI
- absent pinna reflex / MGI
- abnormal epiphyseal plate morphology / MGI
- absent retinal cone cells / MGI
- retinal photoreceptor degeneration / MGI
- absent retinal rod cells / MGI
- absent eye pigmentation / MGI
- absent photoreceptor outer segment / MGI
- abnormal hair shaft melanin granule morphology / MGI
- decreased survivor rate / MGI
- abnormal foot pigmentation / MGI
- abnormal retinal development / MGI
- exostosis / MGI
- variable depigmentation / MGI
- decreased serotonin level / MGI
- increased trabecular bone connectivity density / MGI
- decreased tail pigmentation / MGI
- decreased ear pigmentation / MGI
- vacuolated lens / MGI
- increased or absent threshold for auditory brainstem response / MGI
- abnormal optic fissure closure / MGI
- ciliary body hypoplasia / MGI
- abnormal ciliary process morphology / MGI