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Gene: Hmcn1 MGI:2685047

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Gene Summary

Name:
hemicentin 1
Synonyms:
EG545370,  LOC240793

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IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
cataract Hmcn1em1(IMPC)J HOM Early adult 1.00×10-07
hyperactivity Hmcn1em1(IMPC)J HOM Early adult 5.35×10-06
abnormal optic disk morphology Hmcn1em1(IMPC)J HOM   Early adult 1.12×10-06

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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

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Auditory Brain Stem Response

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

8 Images

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Human diseases caused by Hmcn1 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 Hmcn1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Macular Degeneration, Age-Related, 1
Macular drusen, Macular hemorrhage, Macular degeneration, Choroidal neovascularization, Foveal hy... OMIM:603075

The table below shows human diseases predicted to be associated to Hmcn1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Leber Hereditary Optic Neuropathy, Modifier Of
Leber optic atrophy, Optic atrophy OMIM:308905
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Schizophrenia 15
Hyperactivity OMIM:613950
Cataract 35
Cataract OMIM:609376
Retinitis Pigmentosa 42
Cystoid macular edema, Rod-cone dystrophy, Peripapillary atrophy, Perifoveal ring of hyperautoflu... OMIM:612943
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic disc pallor, Optic atrophy OMIM:165300
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy OMIM:300719
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Retinitis Pigmentosa 36
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:610599
Leber Congenital Amaurosis 13
Retinal dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ret... OMIM:612712
Aniridia 3
Cataract OMIM:617142
Auditory Neuropathy And Optic Atrophy
Rod-cone dystrophy, Optic atrophy OMIM:617717
Corneal Dystrophy, Groenouw Type I
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy OMIM:121900
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Foveal Hypoplasia 1
Presenile cataracts, Hypoplasia of the fovea OMIM:136520
Optic Atrophy 9
Optic disc pallor, Optic atrophy OMIM:616289
X-Linked Retinoschisis
Retinoschisis, Cataract ORPHA:792
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy OMIM:136600
Cataract 42
Cataract, Developmental cataract OMIM:115900
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Optic atrophy, Vitreoretinopathy... OMIM:143200
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Attenuation of retinal blood vessels, Optic atrophy OMIM:165510
Glaucoma 3, Primary Congenital, E
Megalocornea, Corneal stromal edema, Increased cup-to-disc ratio OMIM:617272
Intellectual Developmental Disorder, Autosomal Dominant 33
Chorioretinal degeneration, Hyperactivity OMIM:616311
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Optic Atrophy 5
Optic atrophy OMIM:610708
Optic Atrophy 2
Optic atrophy OMIM:311050
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy OMIM:165199
Aniridia-Intellectual Disability Syndrome
Cataract, Optic nerve hypoplasia, Aniridia, Ectopia lentis ORPHA:1068
Aniridia 2
Optic atrophy, Lens subluxation, Cataract, Iris coloboma, Aniridia OMIM:617141
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Retinitis Pigmentosa 71
Rod-cone dystrophy, Optic disc drusen, Attenuation of retinal blood vessels, Perifoveal ring of h... OMIM:616394
Trichomegaly
Cataract OMIM:190330
Anterior Segment Dysgenesis 8
Optic nerve dysplasia, Iris transillumination defect, Persistent pupillary membrane, Hypoplasia o... OMIM:617319
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation... OMIM:618195
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Spastic Ataxia-Corneal Dystrophy Syndrome
Corneal dystrophy, Optic atrophy, Developmental cataract ORPHA:2572
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Iris cyst, Hypoplasia of the fovea, Optic atrophy OMIM:620086
Retinitis Pigmentosa 40
Cataract, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blo... OMIM:613801
Coats Disease
Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Cataract, Retinal detachment, Abnorm... ORPHA:190
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Posterior vitreous detachment, Cataract, Chorioretinal atrophy, Reti... OMIM:616468
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the re... OMIM:614500
Pupillary Membrane, Persistence Of
Megalocornea, Persistent pupillary membrane, Developmental cataract OMIM:178900
Cataract-Microcornea Syndrome
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy ORPHA:1377
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic disc pallor, Peripheral axonal neuropathy, Optic atrophy OMIM:617087
Nathalie Syndrome
Cataract ORPHA:2663
Bardet-Biedl Syndrome 18
Retinal dystrophy, Cataract, Rod-cone dystrophy OMIM:615995
Birdshot Chorioretinopathy
Retinal thinning, Abnormal choroid morphology, Vitritis, Vitreous floaters, Choroidal neovascular... ORPHA:179
Leg, Absence Deformity Of, With Congenital Cataract
Optic nerve dysplasia, Progressive cataract, Developmental cataract OMIM:246000
Megalocornea
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... OMIM:309300
Retinitis Pigmentosa 30
Rod-cone dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Attenuation of retina... OMIM:607921
Vitreoretinal Degeneration, Snowflake Type
Retinal dots, Corneal guttata, Snowflake vitreoretinal degeneration, Cataract, Optically empty vi... OMIM:193230
Leber Congenital Amaurosis 19
Retinal degeneration, Optic disc pallor, Attenuation of retinal blood vessels OMIM:618513
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lattice retinal degeneration, Peripheral vitreoretinal degeneration, Vitreous floaters, Lens subl... OMIM:614292
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Retinitis Pigmentosa 57
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:613582
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic atrophy, Optic disc pallor OMIM:609021
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Spastic Ataxia 7, Autosomal Dominant
Optic atrophy OMIM:108650
Retinitis Pigmentosa 33
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... OMIM:610359
Microphthalmia, Isolated 5
Retinal pigment epithelial atrophy, Optic disc drusen, Foveoschisis, Bone spicule pigmentation of... OMIM:611040
Hyperlysinemia, Type I
Hyperactivity, Ectopia lentis OMIM:238700
Stickler Syndrome Type 2
Retinopathy, Cataract, Corneal opacity, Retinal detachment, Abnormal vitreous humor morphology ORPHA:90654
Myopia 17, Autosomal Dominant
Presenile cataracts, Retinal hole OMIM:608367
Galactosemia Iv
Cataract OMIM:618881
Retinitis Pigmentosa 84
Rod-cone dystrophy, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... OMIM:618220
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Optic atrophy OMIM:300928
Retinitis Pigmentosa 9
Rod-cone dystrophy, Macular edema, Macular atrophy, Bone spicule pigmentation of the retina, Cata... OMIM:180104
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Spastic Paraplegia 74, Autosomal Recessive
Peripheral axonal neuropathy, Optic atrophy OMIM:616451
Retinitis Pigmentosa 63
Rod-cone dystrophy, Optic disc pallor OMIM:614494
Retinitis Pigmentosa 13
Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm... OMIM:600059
Retinitis Pigmentosa 81
Retinal pigment epithelial atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, A... OMIM:617871
Leber Congenital Amaurosis 2
Optic disc pallor, Attenuation of retinal blood vessels, Cataract, Fundus atrophy, Keratoconus, P... OMIM:204100
Morm Syndrome
Retinal dystrophy, Cataract, Retinal atrophy, Hyperactivity ORPHA:75858
Retinitis Pigmentosa 86
Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... OMIM:618613
Retinitis Pigmentosa 95
Perifoveal ring of hyperautofluorescence, Bone spicule pigmentation of the retina, Attenuation of... OMIM:620102
Exfoliation Syndrome
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... OMIM:177650
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Rod-cone dystrophy, Microcornea OMIM:619082
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels... OMIM:604393
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Cataract OMIM:610092
Retinitis Pigmentosa 62
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:614181
Cataract 21, Multiple Types
Cortical pulverulent cataract, Macular hypoplasia, Cerulean cataract, Microcornea, Iris coloboma,... OMIM:610202
Optic Atrophy 12
Optic disc pallor, Optic atrophy OMIM:618977
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Night Blindness, Congenital Stationary, Type 1G
Rod-cone dystrophy, Congenital stationary night blindness, Optic disc pallor OMIM:616389
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Retinitis Pigmentosa 46
Rod-cone dystrophy, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Optic d... OMIM:612572
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Iris coloboma, Progressive cataract OMIM:604219
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic disc pallor, Optic atrophy OMIM:182830
Striatonigral Degeneration, Infantile
Optic atrophy, Dysphagia OMIM:271930
Ectopia Lentis Et Pupillae
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Retinal detachment, Pe... OMIM:225200
Liberfarb Syndrome
Retinal degeneration, Retinal pigment epithelial mottling, Optic disc pallor, Bone spicule pigmen... OMIM:618889
Cone-Rod Dystrophy 17
Optic disc pallor, Cone/cone-rod dystrophy OMIM:615163
Retinal Dystrophy And Obesity
Retinal pigment epithelial atrophy, Peripapillary atrophy, Retinal dots, Retinal dystrophy, Atten... OMIM:616188
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Retinitis Pigmentosa 4
Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... OMIM:613731
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Optic disc coloboma, Abnormality of retinal pigmentation ORPHA:35737
Ceroid Lipofuscinosis, Neuronal, 11
Retinal dystrophy, Optic atrophy OMIM:614706
Galactosemia Ii
Cataract OMIM:230200
Retinitis Pigmentosa 11
Rod-cone dystrophy, Macular edema, Macular degeneration, Macular atrophy, Bone spicule pigmentati... OMIM:600138
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Optic atrophy, Cataract, Iris coloboma, Corneal opacity, Chorioretinal col... ORPHA:1473
Retinitis Pigmentosa 32
Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... OMIM:609913
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Nuclear cataract, Zonular cataract, Developmental cataract OMIM:600881
Retinitis Pigmentosa 28
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor OMIM:606068
Retinitis Pigmentosa 70
Rod-cone dystrophy, Retinal degeneration, Macular degeneration, Attenuation of retinal blood vess... OMIM:615922
Retinitis Pigmentosa 50
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Opt... OMIM:613194
Central Retinal Vein Occlusion
Abnormal anterior eye segment morphology, Macular edema, Retinal vascular tortuosity, Macular deg... ORPHA:411527
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Retinitis Pigmentosa 26
Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor OMIM:608380
Retinitis Pigmentosa 38
Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy, Optic disc pallor OMIM:613862
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Leber Congenital Amaurosis 16
Cataract, Optic disc pallor OMIM:614186
Cataract 1, Multiple Types
Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Microcornea OMIM:116200
Retinitis Pigmentosa 56
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... OMIM:613581
Cataract 47
Cataract, Microcornea OMIM:612018
Retinitis Pigmentosa 10
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:180105
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Cataract, Sensory axonal neuropathy, Optic atrophy, Dysphagia ORPHA:329314
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract, Hyperactivity ORPHA:85288
Optic Atrophy 6
Optic atrophy OMIM:258500
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Optic disc pallor, Cerulean cataract OMIM:616732
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal fold, Retinal dystrophy, Abnormality of retinal pigmentation, Cataract, Chorioretinal dys... OMIM:251270
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy ORPHA:2773
Familial Exudative Vitreoretinopathy
Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret... ORPHA:891
Retinitis Pigmentosa 25
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:602772
Retinitis Pigmentosa 76
Peripapillary atrophy, Retinal thinning, Hyperautofluorescent macular lesion, Bone spicule pigmen... OMIM:617123
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Irvan Syndrome
Tractional retinal detachment, Macular edema, Optic atrophy, Retinal exudate, Vitreous floaters, ... ORPHA:209943
Leber Congenital Amaurosis 6
Cataract, Keratoconus, Attenuation of retinal blood vessels OMIM:613826
Retinitis Pigmentosa 88
Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... OMIM:618826
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Infantile-Onset Spinocerebellar Ataxia
Abnormality of the autonomic nervous system, Optic atrophy ORPHA:1186
Isolated Optic Nerve Hypoplasia/Aplasia
Pseudopapilledema, Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, Optic nerve hypoplasia,... ORPHA:137902
Cone-Rod Dystrophy, X-Linked, 3
Cone/cone-rod dystrophy, Astigmatism, Abnormality of macular pigmentation, Retinal detachment, Op... OMIM:300476
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Leber Congenital Amaurosis
Cataract, Keratoconus, Abnormal optic disc morphology, Abnormality of retinal pigmentation ORPHA:65
Cataract 3, Multiple Types
Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract, Developmental cataract OMIM:601547
Leber Congenital Amaurosis 8
Choriocapillaris atrophy, Cataract, Chorioretinal atrophy, Keratoconus, Macular coloboma, Pigment... OMIM:613835
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Retinal dystrophy, Bone spicule pigmentat... OMIM:616108
Retinitis Pigmentosa 72
Rod-cone dystrophy, Peripapillary atrophy, Bone spicule pigmentation of the retina, Attenuation o... OMIM:616469
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Optic atrophy, Macular atrophy, Microcornea, Cataract, Optic disc pallor OMIM:616171
Isolated Aniridia
Cataract, Peters anomaly, Aplasia/Hypoplasia of the macula, Aniridia ORPHA:250923
Retinitis Pigmentosa 73
Rod-cone dystrophy, Peripapillary atrophy, Macular crystals, Retinal atrophy, Bone spicule pigmen... OMIM:616544
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Retinitis Pigmentosa 43
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:613810
Retinitis Pigmentosa 19
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... OMIM:601718
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma, Chorioretinal coloboma OMIM:120433
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Optic atrophy, Dysphagia ORPHA:1171
Leber Congenital Amaurosis 1
Optic disc drusen, Attenuation of retinal blood vessels, Cataract, Fundus atrophy, Keratoconus, P... OMIM:204000
Leber Congenital Amaurosis 9
Optic atrophy, Optic disc pallor, Retinal dots, Retinal pigment epithelial mottling, Macular atro... OMIM:608553
Retinitis Pigmentosa 78
Cystoid macular edema, Optic disc pallor OMIM:617433
Retinitis Pigmentosa 14
Retinal arteriolar constriction, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Pos... OMIM:600132
Autosomal Dominant Keratitis
Macular hypoplasia, Limbal stem cell deficiency, Abnormal corneal limbus morphology, Corneal neov... ORPHA:2334
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Cataract, Iris coloboma, Optic disc coloboma, Retinal coloboma OMIM:216820
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Nathalie Syndrome
Cataract OMIM:255990
Retinitis Pigmentosa 79
Optic disc pallor, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... OMIM:617460
Autosomal Recessive Spastic Paraplegia Type 57
Abnormality of peripheral nerve conduction, Optic atrophy ORPHA:431329
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Usher Syndrome, Type 1M
Optic disc pallor, Drusen OMIM:618632
Ceroid Lipofuscinosis, Neuronal, 3
Rod-cone dystrophy, Optic atrophy, Retinal degeneration, Macular degeneration, Cataract OMIM:204200
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Retinal dystrophy, Optic disc pallor OMIM:616079
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Neurodegeneration With Brain Iron Accumulation
Retinopathy, Optic atrophy ORPHA:385
Developmental And Epileptic Encephalopathy 43
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder OMIM:617113
Norrie Disease
Retinal fold, Optic atrophy, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior ch... OMIM:310600
Macular Dystrophy With Central Cone Involvement
Perifoveal ring of hyperautofluorescence, Bull's eye maculopathy, Macular dystrophy, Optic disc p... OMIM:616170
Cataract 5, Multiple Types
Lamellar cataract, Zonular cataract, Pulverulent cataract, Anterior polar cataract, Nuclear cataract OMIM:116800
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... ORPHA:67043
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Optic atrophy OMIM:619470
Retinitis Pigmentosa 66
Posterior subcapsular cataract, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Opti... OMIM:615233
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... OMIM:269400
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Retinal arteriolar constriction, Papilledema OMIM:124950
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract, Retinopathy OMIM:183800
Exudative Vitreoretinopathy 4
Exudative vitreoretinopathy, Vitreous hemorrhage, Tractional retinal detachment, Posterior vitreo... OMIM:601813
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Proximal Myotonic Myopathy
Cataract ORPHA:606
Retinitis Pigmentosa 60
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... OMIM:613983
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal fold, Optic atrophy, Agitation, Microcornea, Astigmatism, Cataract, Attention deficit hyp... OMIM:152950
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Optic disc pallor, Optic atrophy, Dysphagia OMIM:617086
Juvenile Glaucoma
Temporal optic disc pallor, Retinal arterial occlusion, Optic neuropathy, Abnormal optic nerve mo... ORPHA:98977
Cataract 20, Multiple Types
Cortical cataract, Sutural cataract, Lamellar cataract, Membranous cataract OMIM:116100
Cataract 6, Multiple Types
Posterior polar cataract, Developmental cataract, Choroideremia OMIM:116600
Stickler Syndrome, Type V
Retinal detachment, Cataract, Vitreoretinopathy OMIM:614284
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c... ORPHA:708
Retinitis Pigmentosa 2
Rod-cone dystrophy, Cataract, Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy,... OMIM:312600
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Corneal scarring, Retinal dystrophy, Macular atrophy, Buphthalmos, Cataract, Iris coloboma, Chori... OMIM:212550
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Onion bulb formation, Rod-cone dystrophy, Optic atrophy, Segmental peripheral demyelination/remye... OMIM:311070
Retinitis Pigmentosa 1
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:180100
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Lens subluxation, Cataract, Retinal detachment, Microphakia ORPHA:171844
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Retinal exudate,... OMIM:133780
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy ORPHA:85297
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Wildervanck Syndrome
Lens subluxation, Pseudopapilledema, Facial palsy ORPHA:3456
Usher Syndrome, Type Iiib
Optic disc pallor OMIM:614504
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Posterior synechiae of the anterior chamber, Iris coloboma, Retinal atrophy, Developmental cataract OMIM:616722
Intellectual Developmental Disorder, Autosomal Dominant 67
Astigmatism, Hyperactivity, Attention deficit hyperactivity disorder OMIM:619927
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Cataract 16, Multiple Types
Retinal dystrophy, Lenticonus, Posterior polar cataract, Developmental cataract OMIM:613763
Glaucoma, Primary Closed-Angle
Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio OMIM:618880
Mitochondrial Complex I Deficiency, Nuclear Type 34
Optic disc pallor, Optic atrophy OMIM:618776
Spinocerebellar Ataxia 7
Macular degeneration, Pigmentary retinopathy, Optic atrophy, Dysphagia OMIM:164500
Idiopathic Anterior Uveitis
Macular edema, Posterior synechiae of the anterior chamber, Posterior subcapsular cataract, Nucle... ORPHA:280914
Bardet-Biedl Syndrome 9
Rod-cone dystrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:615986
Retinitis Pigmentosa 12
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:600105
Eales Disease
Iris neovascularization, Vitreous hemorrhage, Macular edema, Vitreous haze, Vitritis, Tractional ... ORPHA:40923
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Posterior subcapsular cataract, Rod-cone dystrophy, Macular atrophy, Optic disc pallor OMIM:615434
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Rod-cone dystrophy, Optic atrophy, Cataract, Decreased nerve conduction velocity, Subcapsular cat... OMIM:612674
Cataract 39, Multiple Types
Anterior polar cataract, Lamellar cataract, Developmental cataract OMIM:615188
Early-Onset X-Linked Optic Atrophy
Decreased nerve conduction velocity, Optic atrophy, Optic disc pallor ORPHA:98890
Late-Onset Retinal Degeneration
Abnormal anterior eye segment morphology, Abnormal suspensory ligament of lens morphology, Peripa... ORPHA:67042
Leber Optic Atrophy And Dystonia
Leber optic atrophy, Optic atrophy, Dysphagia OMIM:500001
Anterior Segment Dysgenesis 2
Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters anomaly, Cor... OMIM:610256
Phenylketonuria
Cataract, Attention deficit hyperactivity disorder, Blue irides, Hyperactivity OMIM:261600
Leber Congenital Amaurosis 14
Retinal dystrophy, Rod-cone dystrophy, Optic disc pallor OMIM:613341
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Retinal thinning OMIM:618970
Retinitis Pigmentosa
Optic atrophy, Abnormality of retinal pigmentation, Cataract, Keratoconus, Abnormal retinal vascu... ORPHA:791
Retinitis Pigmentosa 49
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:613756
Coloboma, Ocular, Autosomal Dominant
Morning glory anomaly, Optic nerve aplasia, Remnants of the hyaloid vascular system, Peters anoma... OMIM:120200
Anterior Segment Dysgenesis 1
Ocular anterior segment dysgenesis, Posterior polar cataract, Microcornea, Peters anomaly, Opacif... OMIM:107250
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Gyrate Atrophy Of Choroid And Retina
Abnormal macular morphology, Chorioretinal hyperpigmentation, Cataract, Chorioretinal atrophy, Ch... ORPHA:414
Cone-Rod Dystrophy 3
Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Optic disc pallor, Bull's eye macu... OMIM:604116
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Cataract, Temporal optic disc pallor, Retinal pigment epithelial mottling OMIM:619649
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Retinitis Pigmentosa 58
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:613617
Riboflavin Transporter Deficiency
Iris hypopigmentation, Abnormal autonomic nervous system physiology, Dysphagia, Abnormal cranial ... ORPHA:97229
Intermediate Uveitis
Macular edema, Vitreous haze, Posterior synechiae of the anterior chamber, Vitreous floaters, Epi... ORPHA:279914
Retinitis Pigmentosa 74
Pigmentary retinopathy, Rod-cone dystrophy, Posterior polar cataract, Optic disc pallor OMIM:616562
Pellagra-Like Syndrome
Cataract OMIM:260650
Cataract 30, Multiple Types
Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract OMIM:116300
Infantile Spasms-Broad Thumbs Syndrome
Cataract, Optic disc pallor ORPHA:3173
Spastic Paraplegia Type 7
Optic disc pallor, Attention deficit hyperactivity disorder, Optic atrophy, Dysphagia ORPHA:99013
Retinitis Pigmentosa 41
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:612095
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Developmental cataract, Impulsivity, Attention deficit hyperactivity disorder, Myo... OMIM:620141
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal pigment epithelial atrophy, Optic disc drusen, Abnormal macular morphology, Posterior syn... ORPHA:364055
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Retinal arteriolar constriction, Optic atrophy OMIM:249660
Cone-Rod Dystrophy 20
Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy OMIM:615973
Aniridia 1
Corneal erosion, Hypoplasia of the iris, Retinal vascular tortuosity, Corneal neovascularization,... OMIM:106210
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy ORPHA:440727
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Rod-cone dystrophy, Retinal coloboma OMIM:601794
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic disc pallor, Optic atrophy OMIM:612989
Enhanced S-Cone Syndrome
Macular edema, Vitreoretinopathy, Retinoschisis, Cataract, Pigmentary retinopathy OMIM:268100
Pontocerebellar Hypoplasia, Type 16
Cataract, Optic atrophy, Dysphagia OMIM:619527
Cataract 31, Multiple Types
Posterior subcapsular cataract, Nuclear cataract, Anterior subcapsular cataract OMIM:605387
Zika Virus Disease
Conjunctivitis, Retinal pigment epithelial mottling, Abnormal optic disc morphology, Optic disc h... ORPHA:448237
Null Syndrome
Abnormality of peripheral nerve conduction, Peripheral demyelination, Optic atrophy, Decreased ne... ORPHA:280234
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Rod-cone dystrophy, Retinal coloboma ORPHA:363741
Posterior Column Ataxia With Retinitis Pigmentosa
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Bone spicule pigmentation of the retin... OMIM:609033
Optic Atrophy 8
Abnormal auditory evoked potentials, Prolonged somatosensory evoked potentials, Optic atrophy OMIM:616648
Oculoauricular Syndrome
Rod-cone dystrophy, Morning glory anomaly, Posterior embryotoxon, Cone/cone-rod dystrophy, Poster... OMIM:612109
Insensitivity To Pain, Congenital, With Anhidrosis
Hyperactivity, Corneal scarring, Abnormal autonomic nervous system physiology, Decreased number o... OMIM:256800
Chromosome Xp11.3 Deletion Syndrome
Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels, Posterior subcapsular ca... OMIM:300578
Cataract 18
Nuclear cataract OMIM:610019
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 41
Nuclear cataract OMIM:116400
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Optic disc pallor OMIM:613730
Cataract 15, Multiple Types
Cortical cataract, Lamellar cataract, Nuclear cataract OMIM:615274
Cataract 33, Multiple Types
Cortical cataract, Lamellar cataract, Nuclear cataract OMIM:611391
Coenzyme Q10 Deficiency, Primary, 2
Bulimia, Optic atrophy OMIM:614651
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rod-cone dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Cataract, Optic disc ... OMIM:268315
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Woolly Hair
Abnormal pupil morphology, Cataract, Abnormal retinal morphology ORPHA:170
Madras Motor Neuron Disease
Facial palsy, Optic atrophy, Dysphagia ORPHA:137867
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal fold, Leukocoria, Posterior synechiae of the anterior chamber, Microcornea, Buphthalmos, ... OMIM:221900
X-Linked Intellectual Disability, Najm Type
Cataract, Chorioretinal coloboma, Optic atrophy, Optic nerve hypoplasia ORPHA:163937
Persistent Hyperplastic Primary Vitreous
Retinal fold, Tractional retinal detachment, Leukocoria, Macular hypoplasia, Hyaloid vascular rem... ORPHA:91495
Wildervanck Syndrome
Pseudopapilledema OMIM:314600
Idiopathic Panuveitis
Vitreous haze, Posterior synechiae of the anterior chamber, Vitreous floaters, Choroidal neovascu... ORPHA:280921
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Jalili Syndrome
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular atrophy, Bone spicule pigme... OMIM:217080
Amaurosis-Hypertrichosis Syndrome
Retinal dystrophy, Optic atrophy, Cone/cone-rod dystrophy ORPHA:1021
Classic Pantothenate Kinase-Associated Neurodegeneration
Rod-cone dystrophy, Attention deficit hyperactivity disorder, Dysphagia, Optic disc pallor, Pigme... ORPHA:216866
Leber Optic Atrophy
Optic neuropathy, Central retinal vessel vascular tortuosity, Leber optic atrophy, Optic atrophy OMIM:535000
Opticocochleodentate Degeneration
Optic atrophy OMIM:258700
Sturge-Weber Syndrome
Optic atrophy, Abnormal choroid morphology, Iris coloboma, Conjunctival telangiectasia, Heterochr... ORPHA:3205
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Ocular anterior segment dysgenesis, Hypoplasia of the iris, Anterior synechiae of the anterior ch... OMIM:614195
Cerebral Visual Impairment
Optic atrophy, Optic nerve hypoplasia, Attention deficit hyperactivity disorder, Optic disc pallo... ORPHA:447788
Mitochondrial Complex I Deficiency, Nuclear Type 27
Optic atrophy OMIM:618248
Jalili Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1873
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Sensory axonal neuropathy, Optic disc pallor, Optic atrophy, Motor axonal neuropathy OMIM:609541
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... ORPHA:320406
Wolfram Syndrome 1
Cataract, Pigmentary retinopathy, Optic atrophy, Dysphagia OMIM:222300
Leber Congenital Amaurosis 15
Peripapillary atrophy, Retinal degeneration, Dull foveal reflex, Attenuation of retinal blood ves... OMIM:613843
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Osteopetrosis, Autosomal Recessive 4
Optic disc pallor, Optic atrophy, Facial palsy OMIM:611490
Multiple Sulfatase Deficiency
Abnormality of peripheral nerve conduction, Optic atrophy, Abnormality of retinal pigmentation, C... ORPHA:585
Microphthalmia, Syndromic 5
Retinal dystrophy, Cataract, Optic nerve hypoplasia, Microcornea OMIM:610125
Stankiewicz-Isidor Syndrome
Hyperactivity, Abnormal optic disc morphology OMIM:617516
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Septo-optic dysplasia, Microcornea, Iris coloboma, Cataract ORPHA:3301
Papilloma Of Choroid Plexus
Papilledema OMIM:260500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Posterior synechiae of the anterior chamber, Developmental cataract, Retinal dyspl... OMIM:613154
Xeroderma Pigmentosum, Complementation Group B
Cataract, Decreased nerve conduction velocity, Pigmentary retinopathy, Optic atrophy OMIM:610651
Hermansky-Pudlak Syndrome 8
Iris transillumination defect, Ocular albinism, Astigmatism, Hypoplasia of the fovea, Blue irides... OMIM:614077
Pierson Syndrome
Retinal hemorrhage, Microcoria, Rieger anomaly, Hypoplasia of the ciliary body, Macular hypoplasi... OMIM:609049
Phace Association
Horner syndrome, Optic atrophy, Developmental cataract, Optic nerve hypoplasia, Increased retinal... OMIM:606519
Histidinemia
Hyperactivity ORPHA:2157
Retinitis Pigmentosa And Erythrocytic Microcytosis
Retinal pigment epithelial atrophy, Retinal atrophy, Epiretinal membrane, Photoreceptor layer los... OMIM:616959
Autosomal Dominant Optic Atrophy And Cataract
Optic atrophy, Cerulean cataract, Anterior subcapsular cataract, Posterior subcapsular cataract, ... ORPHA:67036
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Motor axonal neuropathy, Optic atrophy, Abnormal autonomic nervous syste... OMIM:231550
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
Temtamy Preaxial Brachydactyly Syndrome
Abnormal optic disc morphology, Abnormal lens morphology, Optic atrophy ORPHA:363417
Knobloch Syndrome 1
Peripapillary atrophy, Iris transillumination defect, Macular hypoplasia, Developmental cataract,... OMIM:267750
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Decreased corneal thickness, Abnormal optic disc morphology, Congenital stationary night blindness ORPHA:293967
Norrie Disease
Abnormal pupil morphology, Optic atrophy, Hypoplasia of the iris, Anterior chamber synechiae, Abn... ORPHA:649
Wolfram Syndrome 2
Optic neuropathy, Optic atrophy OMIM:604928
7Q11.23 Microduplication Syndrome
Astigmatism, Hyperactivity, Abnormal optic disc morphology, Polyphagia ORPHA:96121
Macular Degeneration, Age-Related, 1
Macular drusen, Macular hemorrhage, Macular degeneration, Choroidal neovascularization, Foveal hy... OMIM:603075
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Retinal dystrophy, Abnormal optic disc morphology, Subretinal deposits ORPHA:397715
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Retinal coloboma, Abnormal optic disc morphology, Optic nerve hypoplasia, Iris coloboma, Facial p... ORPHA:508498

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 Hmcn1

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 Hmcn1.

No publications found that use IMPC mice or data for Hmcn1.

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MGI Allele Allele Type Produced
Hmcn1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Hmcn1em1(IMPC)J Exon Deletion Mice
Hmcn1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Hmcn1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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