strain-details - INFRAFRONTIER

Disease and phenotype information

Status	Available to order
EMMA ID	EM:00198
International strain name	MI/HgDstIeg
Alternative name	Hertwig`s microphthalmia
Strain type	Induced Mutant Strains : Radiation-induced
Allele/Transgene symbol	Mitf^Mi
Gene/Transgene symbol	Mitf

Provider	Dietmar Schlote
Provider affiliation	Martin-Luther University, Halle/Wittenberg
Phenotypic information	Microphthalmia. heterozygous mice exhibit less iris pigment; homozygous mice are devoid of iris pigment
References	None available

Archiving centre	Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH), Oberschleißheim, Germany

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 (allele matching)

abnormal cochlea morphology / MGI
abnormal stria vascularis morphology / MGI
belly spot / MGI
abnormal coat/hair pigmentation / MGI
abnormal cochlear hair cell morphology / MGI
white spotting / MGI
head spot / MGI
decreased eye pigmentation / MGI
abnormal iris stromal pigmentation / MGI
abnormal vestibular saccule morphology / MGI
abnormal mast cell physiology / MGI
abnormal serotonin level / MGI
osteopetrosis / MGI
failure of tooth eruption / MGI
decreased mast cell number / MGI
abnormal eye development / MGI
microphthalmia / MGI
absent optic nerve / MGI
postnatal lethality / MGI
abnormal scala media morphology / MGI
abnormal optic stalk morphology / MGI
abnormal optic cup morphology / MGI
abnormal osteoclast morphology / MGI
increased osteoclast cell number / MGI
abnormal optic choroid morphology / MGI
abnormal ciliary body morphology / MGI
abnormal retinal pigmentation / MGI
absent coat pigmentation / MGI
eyelids fail to open / MGI
abnormal posterior eye segment morphology / MGI
abnormal retinal pigment epithelium morphology / MGI
coloboma / MGI
abnormal skeleton morphology / MGI
abnormal retinal neuronal layer morphology / MGI
decreased survivor rate / MGI
decreased body size / MGI
absent eye pigmentation / MGI
absent skin pigmentation / MGI
hypopigmentation / MGI
vision/eye phenotype / MGI

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

Information on how we integrate external resources can be found here

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^*

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).

Practical information

Example health report
(Current health report will be provided later)

Material Transfer Agreement (MTA)
For this strain no provider MTA is needed. Distribution is based on the EMMA conditions only.

EMMA conditions
Legally binding conditions for the transfer

MI/HgDstIeg

Information from provider

Information from EMMA

Disease and phenotype information

Information on how we integrate external resources can be found here

Availabilities

Practical information

Other EMMA strains