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Gene: Eed MGI:95286

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
embryonic ectoderm development
Synonyms:
l7Rn5,  l(7)5Rn

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Eed mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Eed by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Weaver Syndrome
Deep-set nails, Abnormal fingernail morphology, Thin nail, Hypoplastic toenails, Fine hair ORPHA:3447
Cohen-Gibson Syndrome
Thin nail, Small nail, Melanocytic nevus OMIM:617561

The table below shows human diseases predicted to be associated to Eed by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... ORPHA:42665
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:606952
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... OMIM:619947
Ermine Phenotype
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo OMIM:227010
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Blue irides, Albinism OMIM:606574
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Waardenburg Syndrome, Type 4B
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613265
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:607624
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... OMIM:193510
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... ORPHA:895
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... OMIM:203200
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... ORPHA:79433
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... ORPHA:79414
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:256710
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... ORPHA:2885
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism ORPHA:2786
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... ORPHA:897
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... ORPHA:33445
Piebald Trait
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... OMIM:172800
Piebaldism
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... ORPHA:2884
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... ORPHA:79435
Obesity And Hypopigmentation
Red hair OMIM:620195
Waardenburg Syndrome Type 1
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... ORPHA:894
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:614072
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:177910
Oculocutaneous Albinism Type 2
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... ORPHA:79432
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair ORPHA:2221
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... ORPHA:79434
Ermine Phenotype
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio... ORPHA:999
Griscelli Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79477
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... ORPHA:79431
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... OMIM:203100
Waardenburg Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn... ORPHA:3440
Waardenburg Syndrome, Type 4C
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613266
Carney Complex, Type 1
Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism OMIM:160980
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... OMIM:203300
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp... ORPHA:3214
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin OMIM:618541
Muenke Syndrome
Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule ORPHA:53271
Squalene Synthase Deficiency
Abnormality of hair pigmentation OMIM:618156
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Hypopigmentation of hair, Hypopigmented skin patches, Premature gray... ORPHA:163746
Brittle Cornea Syndrome
Abnormality of hair pigmentation ORPHA:90354
Weaver Syndrome
Deep-set nails, Abnormal fingernail morphology, Thin nail, Hypoplastic toenails, Fine hair ORPHA:3447
Cohen-Gibson Syndrome
Thin nail, Small nail, Melanocytic nevus OMIM:617561

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Eed

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Eed.

There are 12 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Polycomb repressive complex 2 regulates basal cell fate during adult olfactory neurogenesis. Stem cell reports (October 2023) Eedtm1c(EUCOMM)Wtsi PMC10679661
PRC2 disruption in cerebellar progenitors produces cerebellar hypoplasia and aberrant myoid differentiation without blocking medulloblastoma growth. Acta neuropathologica communications (January 2023) Eedtm1c(EUCOMM)Wtsi PMC9838053
UV-induced reduction in Polycomb repression promotes epidermal pigmentation. Developmental cell (September 2021) Eedtm1c(EUCOMM)Wtsi 34473941
Polycomb complexes redundantly maintain epidermal stem cell identity during development. Genes & development (February 2021) Eedtm1c(EUCOMM)Wtsi PMC7919412
Polycomb Repressive Complex 1 Controls Maintenance of Fungiform Papillae by Repressing Sonic Hedgehog Expression. Cell reports (July 2019) Eedtm1c(EUCOMM)Wtsi PMC6921245
Conversion of random X-inactivation to imprinted X-inactivation by maternal PRC2. eLife (April 2019) Eedtm1c(EUCOMM)Wtsi PMC6541438
PRC1 preserves epidermal tissue integrity independently of PRC2. Genes & development (December 2018) Eedtm1c(EUCOMM)Wtsi PMC6317312
PRC1 Fine-tunes Gene Repression and Activation to Safeguard Skin Development and Stem Cell Specification. Cell stem cell (May 2018) Eedtm1c(EUCOMM)Wtsi PMC5944606
PRC2 represses transcribed genes on the imprinted inactive X chromosome in mice. Genome biology (May 2017) Eedtm1c(EUCOMM)Wtsi Eedtm1a(EUCOMM)Wtsi PMC5415793
Polycomb-Mediated Repression and Sonic Hedgehog Signaling Interact to Regulate Merkel Cell Specification during Skin Development. PLoS genetics (July 2016) Eedtm1c(EUCOMM)Wtsi PMC4944976
Dissecting the Roles of Polycomb Repressive Complex 2 Subunits in the Control of Skin Development. The Journal of investigative dermatology (March 2016) Eedtm1c(EUCOMM)Wtsi PMC4958613
Repression of the soma-specific transcriptome by Polycomb-repressive complex 2 promotes male germ cell development. Genes & development (September 2014) Eedtm1c(EUCOMM)Wtsi Eedtm1a(EUCOMM)Wtsi PMC4173155

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MGI Allele Allele Type Produced
Eedtm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Eedtm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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