MGI phenotypes (allele matching)
C3HeB/FeJ-Mitfmi-Mhdabcc2/Ieg
| Status | Available to order |
| EMMA ID | EM:00206 |
| Citation information | RRID:IMSR_EM:00206 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 | C3HeB/FeJ-Mitfmi-Mhdabcc2/Ieg |
| Alternative name | BCC2 |
| Strain type | Induced Mutant Strains : Chemically-induced |
| Allele/Transgene symbol | Mitfmi-Mhdabcc2 |
| Gene/Transgene symbol | Mitf |
Information from provider
| Provider | Martin Hrabe de Angelis |
| Provider affiliation | Institute of Experimental Genetics, Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH) |
| Genetic information | Located on chromosome 6. |
| Phenotypic information | Microphthalmia, pigmentation defect. |
| Breeding history | More than 5 times backcrossed to C3HeB/FeJ. |
| References |
|
Information from EMMA
| Archiving centre | Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH), Oberschleißheim, Germany |
Disease and phenotype information
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
Literature references
- Genome-wide, large-scale production of mutant mice by ENU mutagenesis.;Hrabé de Angelis M H, Flaswinkel H, Fuchs H, Rathkolb B, Soewarto D, Marschall S, Heffner S, Pargent W, Wuensch K, Jung M, Reis A, Richter T, Alessandrini F, Jakob T, Fuchs E, Kolb H, Kremmer E, Schaeble K, Rollinski B, Roscher A, Peters C, Meitinger T, Strom T, Steckler T, Holsboer F, Klopstock T, Gekeler F, Schindewolf C, Jung T, Avraham K, Behrendt H, Ring J, Zimmer A, Schughart K, Pfeffer K, Wolf E, Balling R, ;2000;Nature genetics;25;444-7; 10932192
- Screening for dysmorphological abnormalities--a powerful tool to isolate new mouse mutants.;Fuchs H, Schughart K, Wolf E, Balling R, Hrabé de Angelis M, ;2000;Mammalian genome : official journal of the International Mammalian Genome Society;11;528-30; 10886017
- The novel mouse microphthalmia mutations Mitfmi-enu5 and Mitfmi-bcc2 produce dominant negative Mitf proteins.;Hansdottir Adalheidur Gígja, Pálsdóttir Karen, Favor John, Neuhäuser-Klaus Angelika, Fuchs Helmut, de Angelis Martin Hrabé, Steingrímsson Eiríkur, ;2004;Genomics;83;932-5; 15081122