Gene Summary

Name:
myomesin 2
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal coat/hair pigmentation Myom2em1(IMPC)J HOM Early adult 4.68×10-06
iris synechia Myom2em1(IMPC)J HOM Early adult 3.84×10-07

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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Lateral Orientation

1 Images

X-ray

XRay Images Skull Lateral Orientation

1 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

1 Images

X-ray

XRay Images Whole Body Dorso Ventral

1 Images

X-ray

XRay Images Forepaw

1 Images

Eye Morphology

Images Slit Lamp

1 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Human diseases caused by Myom2 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Myom2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Griscelli Syndrome, Type 3
White eyelashes, Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair OMIM:609227
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Dilution, Pigmentary
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation OMIM:126070
Tietz Syndrome
Abnormal anterior chamber morphology, Hypopigmentation of the skin, Hypopigmentation of hair, Whi... ORPHA:42665
Waardenburg Syndrome, Type 2B
White forelock, Premature graying of hair, Heterochromia iridis OMIM:600193
Loose Anagen Syndrome
Abnormal hair morphology, Abnormal hair whorl, Iris coloboma ORPHA:168
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, Melanin pigment aggregation in hair shafts, Large clu... OMIM:214450
Woolly Hair
Cataract, Sparse body hair, Fine hair, Abnormal pupil morphology, Brittle hair, Abnormality of ha... ORPHA:170
Albinism, Oculocutaneous, Type Iii
Partial albinism, Red hair, Albinism OMIM:203290
Uncombable Hair Syndrome 2
Juvenile cataract, Pili canaliculi, Uncombable hair OMIM:617251
Waardenburg Syndrome, Type 2F
Blue irides, Hypermelanotic macule, Premature graying of hair, Cafe-au-lait spot, White hair, Hyp... OMIM:619947
Yemenite Deaf-Blind Hypopigmentation Syndrome
Iris coloboma, Patchy hypo- and hyperpigmentation, Numerous pigmented freckles, Chorioretinal col... OMIM:601706
Pupillary Membrane, Persistence Of
Megalocornea, Developmental cataract, Persistent pupillary membrane OMIM:178900
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Albinism, Oculocutaneous, Type Iv
Blue irides, Hypopigmentation of hair, Albinism OMIM:606574
Uncombable Hair Syndrome
Patchy alopecia, White hair, Coarse hair, Woolly hair, Abnormal hair morphology, Trichodysplasia ORPHA:1410
Waardenburg Syndrome, Type 4B
Blue irides, Hypopigmented skin patches, Premature graying of hair, White eyelashes, White eyebro... OMIM:613265
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Alopecia, Persistent pupillary membrane, Hypopigmentation of hair, Corneal opacity, Apl... ORPHA:1067
Iridocorneal Endothelial Syndrome
Ectopia pupillae, Abnormal migration of corneal endothelium, Central heterochromia, Hypoplastic i... ORPHA:64734
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Chorioretinal hypopigmentation, Iris transillumination defect, Hypopigm... OMIM:619165
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Corneal opacity, Developmental glaucoma, Abnormal De... OMIM:617315
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Developmental cataract, Posterior synechiae of the anterior chamber, Iris coloboma OMIM:616722
Anterior Segment Dysgenesis 8
Cataract, Ectopia pupillae, Ectopia lentis, Iridodonesis, Microphakia, Persistent pupillary membr... OMIM:617319
Waardenburg Syndrome, Type 2A
Synophrys, Hypoplastic iris stroma, Premature graying of hair, Albinism, Numerous pigmented freck... OMIM:193510
Peters Anomaly
Subcapsular cataract, Thinning of Descemet membrane, Anterior synechiae of the anterior chamber, ... ORPHA:708
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Woolly Hair Nevus
Woolly scalp hair, Congenital posterior occipital alopecia, Patchy hypopigmentation of hair, Curl... ORPHA:79414
Tietz Albinism-Deafness Syndrome
Blue irides, Generalized hypopigmentation, White eyelashes, White eyebrow, Heterochromia iridis OMIM:103500
Anterior Segment Dysgenesis 7
Cataract, Iris coloboma, Buphthalmos, Anterior synechiae of the anterior chamber, Sclerocornea, C... OMIM:269400
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the skin, Hypopigmentation of hair, Albinism OMIM:606952
Corneal Dystrophy, Posterior Polymorphous, 1
Ectopia pupillae, Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology,... OMIM:122000
Anterior Segment Dysgenesis 5
Hypoplasia of the iris, Anterior synechiae of the anterior chamber, Sclerocornea, Developmental c... OMIM:604229
Ermine Phenotype
Vitiligo, Spotty hyperpigmentation, Albinism, White hair, White eyelashes, White eyebrow OMIM:227010
Oculocutaneous Albinism Type 3
Blue irides, Freckling, Iris hypopigmentation, Generalized hypopigmentation of hair, White eyelas... ORPHA:79433
Hidrotic Ectodermal Dysplasia
Anonychia, Absent pubic hair, Absent axillary hair, Sparse axillary hair, Fine hair, Slow-growing... ORPHA:189
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
White forelock, Macular hyperpigmented dermopathy ORPHA:2779
Anterior Segment Dysgenesis 2
Cataract, Congenital aphakia, Anterior segment of eye aplasia, Posterior synechiae of the anterio... OMIM:610256
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Developmental cataract, Fair hair OMIM:618808
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, White forelock, ... ORPHA:895
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Hypotrichosis 8
Nail pits, Ridged nail, Sparse axillary hair, Coarse hair, Woolly hair, Sparse eyebrow, Fair hair... OMIM:278150
Anterior Segment Dysgenesis 3
Ectopia pupillae, Abnormal iris vasculature, Hypoplastic iris stroma, Posterior embryotoxon, Axen... OMIM:601631
Albinism, Oculocutaneous, Type Ii
Blue irides, Freckles in sun-exposed areas, Albinism, Hypopigmentation of the skin, Hypopigmentat... OMIM:203200
Weill-Marchesani Syndrome 4
Phakodonesis, Ectopia lentis, Iridodonesis, Shallow anterior chamber, Posterior synechiae of the ... OMIM:613195
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Freckling, Iris hypopigmentation, Iris coloboma, Hypopigmented skin patches, Anterior synechiae o... ORPHA:3214
Megalocornea
Cataract, Megalocornea, Astigmatism, Iridodonesis, Mosaic corneal dystrophy, Decreased corneal th... OMIM:309300
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Abnormal eyelash morphology, Hypopigmented skin patches, Abnormal ey... ORPHA:2885
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Cataract-Microcornea Syndrome
Cataract, Iris coloboma, Corneal dystrophy, Corneal opacity, Microcornea ORPHA:1377
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Premature graying of hair, Heterochromia iridis ORPHA:66633
Waardenburg Syndrome, Type 4A
Blue irides, Hypopigmented skin patches, Premature graying of hair, White eyelashes, White eyebro... OMIM:277580
Microphthalmia, Isolated, With Coloboma 7
Inferior chorioretinal coloboma, Iris coloboma OMIM:614497
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Hypopigmentation of the skin, Melanin pigment aggrega... OMIM:607624
Posterior Polymorphous Corneal Dystrophy
Ectopia pupillae, Astigmatism, Anterior synechiae of the anterior chamber, Corneal stromal edema,... ORPHA:98973
White Forelock With Malformations
White forelock, Poliosis OMIM:277740
Piebald Trait
Piebaldism, Partial albinism, Absent pigmentation of the ventral chest, White forelock, Heterochr... OMIM:172800
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Ectopia Lentis Et Pupillae
Cataract, Ectopia pupillae, Ectopia lentis, Persistent pupillary membrane, Iris transillumination... OMIM:225200
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Piebaldism, Hypopigmented skin patches, Partial albinism, Heterochro... ORPHA:998
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Microphthalmia, Isolated, With Coloboma 10
Chorioretinal coloboma, Iris coloboma, Microcoria OMIM:616428
Bilateral Acute Depigmentation Of The Iris
Hypoplastic iris stroma, Abnormal corneal endothelium morphology, Abnormal anterior chamber morph... ORPHA:69736
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Albinism, White hair, Abnormality of retinal pigmentation, Hypopigmentatio... ORPHA:79435
Glaucoma, Primary Closed-Angle
Anterior synechiae of the anterior chamber OMIM:618880
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Iris coloboma, Uveitis, Buphthalmos, Persistent pupillary membrane, Shallow anterior ch... OMIM:221900
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Oculocerebral Syndrome With Hypopigmentation
Hypopigmentation of the skin, Silver-gray hair OMIM:257800
Exfoliation Syndrome
Cataract, Mydriasis, Phakodonesis, Abnormal lens morphology, Iris hypoperfusion, Anisocoria, Pigm... OMIM:177650
Vogt-Koyanagi-Harada Disease
Cataract, Vitiligo, Abnormal eyelash morphology, Hypopigmented skin patches, Abnormal eyebrow mor... ORPHA:3437
Oculocutaneous Albinism
Iris hypopigmentation, Iris coloboma, Generalized hypopigmentation, White hair, White eyelashes, ... ORPHA:55
Methionine Malabsorption Syndrome
Blue irides, White hair OMIM:250900
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Piebaldism
Piebaldism, Synophrys, Hypopigmented skin patches, White eyelashes, Hypopigmentation of hair, Whi... ORPHA:2884
Oculocutaneous Albinism Type 1
Blue irides, Iris hypopigmentation, Generalized hypopigmentation, Generalized hypopigmentation of... ORPHA:352731
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Hypopigmentation of the skin, Melanin pigment aggrega... OMIM:256710
Griscelli Syndrome Type 1
Premature graying of hair, Partial albinism, Iris hypopigmentation, White hair ORPHA:79476
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair, Albinism ORPHA:2786
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Oculocutaneous Albinism Type 2
Blue irides, Freckling, Iris hypopigmentation, White eyebrow, White hair, Abnormality of retinal ... ORPHA:79432
Ermine Phenotype
Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Astigmatism, Hypo... ORPHA:999
Albinism, Oculocutaneous, Type Vi
Fair hair, Generalized hypopigmentation OMIM:113750
Axenfeld-Rieger Syndrome, Type 3
Ectopia pupillae, Hypoplasia of the iris, Posterior embryotoxon, Posterior synechiae of the anter... OMIM:602482
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Non Rare In Europe: Idiopathic Anterior Uveitis
Nuclear cataract, Posterior synechiae of the anterior chamber, Posterior subcapsular cataract ORPHA:280914
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation ORPHA:177910
Aniridia 2
Cataract, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... ORPHA:33445
Oculoauricular Syndrome
Cataract, Iris cyst, Iris coloboma, Microphakia, Posterior synechiae of the anterior chamber, Cho... OMIM:612109
Waardenburg-Shah Syndrome
Abnormal eyebrow morphology, Synophrys, Premature graying of hair, Abnormality of retinal pigment... ORPHA:897
Waardenburg Syndrome Type 1
Hypopigmented skin patches, Synophrys, Premature graying of hair, Abnormal hair morphology, Thick... ORPHA:894
Phacoanaphylactic Uveitis
Panuveitis, Anterior chamber flare grade 1+, Abnormal pupil morphology, Posterior uveitis, Abnorm... ORPHA:209959
Facial Spasm
Anisocoria OMIM:134300
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hypoplasia of the iris, Anterior synechiae of the anterior chamber, Band keratopathy, Ocular ante... OMIM:614195
Albinism-Deafness Syndrome
Partial albinism, Albinism, Patchy hypo- and hyperpigmentation, Piebaldism OMIM:300700
Albinism, Oculocutaneous, Type Ia
Blue irides, Astigmatism, Albinism, White hair, Hypopigmentation of hair, Ocular albinism, Absent... OMIM:203100
Amoebic Keratitis
Cataract, Corneal perforation, Corneal ulceration, Abnormal corneal epithelium morphology, Puncta... ORPHA:67043
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Corneal Dystrophy, Posterior Polymorphous, 3
Ectopia pupillae, Corneal guttata, Keratoconus, Corneal dystrophy OMIM:609141
Oculocutaneous Albinism Type 1B
Freckling, Iris hypopigmentation, Albinism, Abnormality of retinal pigmentation, Hypopigmentation... ORPHA:79434
X-Linked Recessive Ocular Albinism
Freckling, Iris hypopigmentation, Astigmatism, Abnormal pupil morphology, Giant melanosomes in me... ORPHA:54
Oculocutaneous Albinism Type 1A
Freckling, Iris hypopigmentation, Albinism, Hypopigmentation of the skin, Hypopigmentation of hai... ORPHA:79431
Idiopathic Panuveitis
Cataract, Choroidal neovascularization, Conjunctival hyperemia, Posterior synechiae of the anteri... ORPHA:280921
Obesity And Hypopigmentation
Red hair OMIM:620195
Waardenburg Syndrome, Type 4C
Blue irides, Hypopigmented skin patches, Premature graying of hair, White eyelashes, White eyebro... OMIM:613266
Intermediate Uveitis
Cataract, Posterior synechiae of the anterior chamber, Band keratopathy, Anterior uveitis ORPHA:279914
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Ectopia lentis, Megalocornea, Iridodonesis, Microspherophakia, Buphthalmos, Deep anterior chamber OMIM:251750
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation ORPHA:411515
Waardenburg Syndrome, Type 3
Blue irides, Hypopigmented skin patches, Synophrys, Premature graying of hair, Partial albinism, ... OMIM:148820
Waardenburg Syndrome, Type 2E
Blue irides, Iris hypopigmentation, Hypopigmented skin patches, Premature graying of hair, Cafe-a... OMIM:611584
Griscelli Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Iris hypopigmentation, Partial albinism ORPHA:79477
2Q24 Microdeletion Syndrome
Cataract, Abnormality iris morphology ORPHA:1617
Distal Deletion 6P
Ectopia pupillae, Abnormal anterior chamber morphology, Hypoplasia of the iris, Anterior synechia... ORPHA:96125
Severe Early-Childhood-Onset Retinal Dystrophy
Granular macular appearance, Retinal pigment epithelial mottling, Abnormal corneal endothelium mo... ORPHA:364055
Hermansky-Pudlak Syndrome 3
Hypopigmentation of the skin, Hypopigmentation of hair, Albinism OMIM:614072
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Cataract, Phakodonesis, Ectopia lentis, Spontaneous conjunctival filtering bleb, Spherophakia, Sh... OMIM:601552
Brittle Cornea Syndrome 1
Keratoglobus, Decreased corneal thickness, Keratoconus, Red hair, Abnormal cornea morphology OMIM:229200
Hermansky-Pudlak Syndrome 11
Albinism, Ocular albinism, Fair hair, Iris transillumination defect, Melanocytic nevus OMIM:619172
Acquired Hypertrichosis Lanuginosa
Fine hair, Hypopigmentation of hair, Generalized hirsutism, Abnormal eyebrow morphology ORPHA:2221
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Developmental cataract, Pigmentary retinopathy, Posterior synechiae of the anterior chamber OMIM:613154
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Waardenburg Syndrome
Abnormal eyebrow morphology, Hypopigmented skin patches, Premature graying of hair, Synophrys, He... ORPHA:3440
Acrodysostosis 2 With Or Without Hormone Resistance
Blue irides, Red hair, Fair hair OMIM:614613
Hermansky-Pudlak Syndrome 1
Freckling, Freckles in sun-exposed areas, Albinism, Hypopigmentation of the skin, Hypopigmentatio... OMIM:203300
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71526
Classic Phenylketonuria
Cataract, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:79254
Waardenburg Syndrome, Type 1
Blue irides, Synophrys, Hypoplastic iris stroma, Premature graying of hair, Thick eyebrow, White ... OMIM:193500
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation ORPHA:98795
Ataxia-Telangiectasia
Multiple cafe-au-lait spots, Hypopigmentation of hair, Premature graying of hair ORPHA:100
Carney Complex, Type 1
Multiple lentigines, Freckling, Red hair, Hirsutism, Profuse pigmented skin lesions OMIM:160980
Tubulointerstitial Nephritis And Uveitis Syndrome
Cataract, Panuveitis, Posterior uveitis, Nongranulomatous uveitis, Chorioretinal scar, Anterior c... ORPHA:91500
Short Syndrome
Megalocornea, Abnormal pupil morphology, Abnormal anterior chamber morphology, Alopecia, Hypoplas... ORPHA:3163
Coats Disease
Leukocoria OMIM:300216
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Unilateral Ocular Duplication
Microcornea, Abnormal pupil morphology, Iris coloboma, Abnormal eyebrow morphology ORPHA:3374
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair ORPHA:70472
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation ORPHA:411511
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of the skin, Hypopigmentation of hair, Cafe-au-lait spot OMIM:618541
Brittle Cornea Syndrome
Keratoglobus, Corneal erosion, Corneal scarring, Decreased corneal thickness, Corneal dystrophy, ... ORPHA:90354
Muenke Syndrome
Hypermelanotic macule, Hypopigmentation of hair, Hypopigmented skin patches ORPHA:53271
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Irregular hyperpigmentation, Trichorrhexis nodosa, Abnormality of the nai... ORPHA:238468
Hermansky-Pudlak Syndrome
Cataract, Iris hypopigmentation, Long eyelashes, Astigmatism, Hypopigmentation of the skin, Hypop... ORPHA:79430
Late-Onset Retinal Degeneration
Iris transillumination defect, Abnormal anterior eye segment morphology, Abnormal suspensory liga... ORPHA:67042
Collagenoma, Familial Cutaneous
Iris atrophy, Congenital posterior occipital alopecia OMIM:115250
Oculocerebral Hypopigmentation Syndrome, Cross Type
Cataract, Iris hypopigmentation, Choroideremia, Hypopigmentation of hair, Ocular albinism, Cornea... ORPHA:2719
Hoyeraal-Hreidarsson Syndrome
Premature graying of hair, Nail dystrophy, Generalized hypopigmentation of hair, Generalized hype... ORPHA:3322
Chediak-Higashi Syndrome
Iris hypopigmentation, Giant melanosomes in melanocytes, Hypopigmentation of the skin, Hypopigmen... OMIM:214500
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Duane Retraction Syndrome
Central heterochromia, Iris coloboma, Irregular hyperpigmentation, Hypopigmented skin patches, Hy... ORPHA:233
Squalene Synthase Deficiency
Abnormality of hair pigmentation OMIM:618156
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation ORPHA:98794
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology ORPHA:2151
1Q41Q42 Microdeletion Syndrome
Abnormality iris morphology, Small nail ORPHA:250999
Congenital Muscular Dystrophy With Cerebellar Involvement
Megalocornea, Cataract, Abnormality iris morphology ORPHA:370959
Axenfeld-Rieger Syndrome, Type 1
Ectopia pupillae, Abnormally prominent line of Schwalbe, Megalocornea, Rieger anomaly, Hypoplasia... OMIM:180500
Oculodentodigital Dysplasia
Cataract, Curly hair, Fine hair, Brittle hair, Abnormality of the nail, Abnormal fingernail morph... ORPHA:2710
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hypopigmented skin patches, Abnormal eyebrow morphology, Premature graying of hair, Hypopigmentat... ORPHA:163746
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair OMIM:609734
Juvenile Glaucoma
Abnormal anterior chamber morphology, Abnormality iris morphology ORPHA:98977
Koolen-De Vries Syndrome
Cataract, Hypopigmentation of hair, Abnormality of hair texture ORPHA:96169
Vici Syndrome
Cataract, Albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Ocular albinism, Deve... OMIM:242840
Sim1-Related Prader-Willi-Like Syndrome
Chorioretinal hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:398079
Prader-Willi Syndrome
Iris hypopigmentation, Generalized hypopigmentation, Hypopigmentation of the skin, Hypopigmentati... OMIM:176270
Prader-Willi Syndrome Due To Translocation
Iris hypopigmentation, Stellate iris, Hypopigmentation of the skin, Hypopigmentation of hair, Hyp... ORPHA:177907
Syndromic Diarrhea
Trichorrhexis nodosa, Uncombable hair, Generalized hypopigmentation, Brittle hair, Cafe-au-lait s... ORPHA:84064
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation ORPHA:98754
Pierson Syndrome
Cataract, Hypoplasia of the ciliary body, Microcoria, Hypoplasia of the iris, Posterior lenticonu... OMIM:609049
Ch├ędiak-Higashi Syndrome
Iris hypopigmentation, Spotty hyperpigmentation, Large clumps of pigment irregularly distributed ... ORPHA:167
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation ORPHA:177901
Magel2-Related Prader-Willi-Like Syndrome
Chorioretinal hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:398069
Prader-Willi-Like Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation ORPHA:398073
Autosomal Recessive Faciodigitogenital Syndrome
Hypopigmentation of hair, Coarse hair, Widow's peak, Dry hair ORPHA:1974
Obsolete: Acrodysostosis With Multiple Hormone Resistance
Blue irides, Red hair, Fair hair ORPHA:280651
Prader-Willi Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:739
Smith-Lemli-Opitz Syndrome
Cataract, Abnormal eyelash morphology, Iris coloboma, Hypopigmentation of hair, Sclerocornea ORPHA:818
Degcags Syndrome
Long eyelashes, Abnormal eyelash morphology, Abnormal eyebrow morphology, Synophrys, Premature gr... OMIM:619488
Menkes Disease
Sparse hair, Hypopigmentation of hair, Woolly hair ORPHA:565
Cystinosis, Nephropathic
Recurrent corneal erosions, Pigmentary retinopathy, Retinal pigment epithelial mottling, Corneal ... OMIM:219800
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Abnormality iris morphology ORPHA:91387

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 Myom2

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 Myom2.

No publications found that use IMPC mice or data for Myom2.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Myom2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Myom2em1(IMPC)J Exon Deletion Mice
Myom2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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