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Gene: Nmt2 MGI:1202298

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Gene Summary

Name:
N-myristoyltransferase 2
Synonyms:
A930001K02Rik,  hNMT-2

Order Alleles

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
increased circulating alkaline phosphatase level Nmt2tm2b(EUCOMM)Hmgu HET Early adult 3.17×10-05
abnormal retina morphology Nmt2tm2b(EUCOMM)Hmgu HET Early adult 3.47×10-08
abnormal optic disk morphology Nmt2tm2b(EUCOMM)Hmgu HET Early adult 3.80×10-05

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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.

Electrocardiogram (ECG)

Waveform Image

34 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Human diseases caused by Nmt2 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 Nmt2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Retinitis Pigmentosa 42
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Peripapillary atrophy, Cystoid macu... OMIM:612943
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Leber Congenital Amaurosis 13
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... OMIM:612712
Auditory Neuropathy And Optic Atrophy
Rod-cone dystrophy, Optic atrophy OMIM:617717
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Drusen, Reticular pigmentary degeneration, Retinal dystrophy OMIM:267800
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Attenuation of retinal blood vessels OMIM:165510
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy OMIM:136600
Retinitis Pigmentosa 71
Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph... OMIM:616394
Macular Degeneration, Age-Related, 13
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar OMIM:615439
Optic Atrophy 9
Optic disc pallor, Optic atrophy OMIM:616289
Optic Atrophy 2
Optic atrophy OMIM:311050
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy OMIM:165199
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Retinitis Pigmentosa 30
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... OMIM:607921
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Retinitis Pigmentosa 57
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... OMIM:613582
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration OMIM:609021
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Retinitis Pigmentosa 63
Optic disc pallor, Rod-cone dystrophy OMIM:614494
Retinitis Pigmentosa 95
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... OMIM:620102
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... OMIM:143200
Retinitis Pigmentosa 62
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... OMIM:614181
Exudative Vitreoretinopathy 3
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Night Blindness, Congenital Stationary, Type 1G
Congenital stationary night blindness, Optic disc pallor, Rod-cone dystrophy OMIM:616389
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... OMIM:613194
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... ORPHA:179
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... OMIM:618889
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy OMIM:613862
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy ORPHA:2253
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Spastic Ataxia 7, Autosomal Dominant
Optic atrophy OMIM:108650
Cone-Rod Dystrophy 17
Cone/cone-rod dystrophy, Optic disc pallor OMIM:615163
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Optic atrophy OMIM:165300
Retinitis Pigmentosa 26
Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:608380
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Spastic Paraplegia 74, Autosomal Recessive
Peripheral axonal neuropathy, Optic atrophy OMIM:616451
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... ORPHA:59181
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy
Optic disc pallor, Optic atrophy OMIM:618511
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... OMIM:617123
Irvan Syndrome
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... ORPHA:209943
Ceroid Lipofuscinosis, Neuronal, 9
Rod-cone dystrophy, Optic atrophy OMIM:609055
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... OMIM:614500
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Retinal dystrophy OMIM:614706
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic disc pallor, Optic atrophy OMIM:182830
Optic Atrophy 12
Optic disc pallor, Optic atrophy OMIM:618977
Usher Syndrome, Type Iiib
Optic disc pallor, Bull's eye maculopathy, Attenuation of retinal blood vessels OMIM:614504
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Olivopontocerebellar Atrophy-Deafness Syndrome
Optic atrophy, Chorioretinal coloboma ORPHA:2732
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:601718
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... OMIM:603075
Optic Atrophy 6
Optic atrophy OMIM:258500
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... OMIM:616188
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... OMIM:616544
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Optic atrophy OMIM:618572
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Hypoplasia of the fovea, Optic atrophy OMIM:620086
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... OMIM:617460
Multiple Mitochondrial Dysfunctions Syndrome 4
Optic atrophy OMIM:616370
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy ORPHA:2773
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... OMIM:611040
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration OMIM:617879
Infantile-Onset Spinocerebellar Ataxia
Abnormality of the autonomic nervous system, Optic atrophy ORPHA:1186
Usher Syndrome, Type 1M
Drusen, Optic disc pallor OMIM:618632
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels OMIM:604393
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Optic disc pallor, Retinal dystrophy OMIM:616079
Macular Dystrophy With Central Cone Involvement
Macular dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculo... OMIM:616170
Spasticity, Childhood-Onset, With Hyperglycinemia
Optic atrophy, Hyperglycinemia OMIM:616859
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Wolfram-Like Syndrome, Autosomal Dominant
Optic disc pallor, Optic atrophy OMIM:614296
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Pigmentary retinopathy, Optic atrophy OMIM:610951
Retinitis Pigmentosa 78
Optic disc pallor, Cystoid macular edema OMIM:617433
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Decreased number of large peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axona... OMIM:617087
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Retinitis Pigmentosa 1
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:180100
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Retinal thinning OMIM:618970
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration OMIM:614322
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Cone-Rod Dystrophy, X-Linked, 3
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Abnormality... OMIM:300476
Leber Congenital Amaurosis 9
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... OMIM:608553
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Papilledema, Retinal arteriolar constriction OMIM:124950
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:613617
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:431329
Retinitis Pigmentosa 49
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613756
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... OMIM:251270
Optic Atrophy 5
Optic disc pallor, Optic atrophy OMIM:610708
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... OMIM:612095
Glaucoma 3, Primary Congenital, E
Increased cup-to-disc ratio OMIM:617272
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy ORPHA:1538
Cone-Rod Dystrophy 3
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... OMIM:604116
Autosomal Recessive Spastic Paraplegia Type 45
Optic atrophy ORPHA:320396
Retinitis Pigmentosa 46
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels OMIM:612572
Retinitis Pigmentosa 12
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:600105
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy ORPHA:85297
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... OMIM:618195
Spinocerebellar Ataxia, Autosomal Recessive 29
Retinal pigment epithelial mottling, Peripheral axonal neuropathy, Optic disc pallor OMIM:619389
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Optic atrophy OMIM:309555
Leber Congenital Amaurosis 2
Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of r... OMIM:204100
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Onion bulb formation, Rod-cone dystrophy, Optic atrophy, Segmental peripheral demyelination/remye... OMIM:311070
Spastic Paraplegia 82, Autosomal Recessive
Optic atrophy OMIM:618770
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Optic atrophy, Elevated circulating creatine kinase concentration OMIM:613151
Striatonigral Degeneration, Infantile
Optic atrophy OMIM:271930
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots OMIM:193230
Cavitary Optic Disc Anomalies
Peripapillary atrophy OMIM:611543
Leber Hereditary Optic Neuropathy
Retinal vascular tortuosity, Optic atrophy, Retinal telangiectasia ORPHA:104
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr... OMIM:602772
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Leber Congenital Amaurosis 14
Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy OMIM:613341
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:609260
Merrf
Optic atrophy ORPHA:551
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation ORPHA:35737
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Cone-Rod Dystrophy 20
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina OMIM:615973
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Ceroid Lipofuscinosis, Neuronal, 3
Macular degeneration, Rod-cone dystrophy, Optic atrophy, Retinal degeneration OMIM:204200
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Myopia 25, Autosomal Dominant
Retinal detachment OMIM:617238
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Mitochondrial Complex I Deficiency, Nuclear Type 34
Optic disc pallor, Optic atrophy OMIM:618776
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy OMIM:300928
Spastic Paraplegia 81, Autosomal Recessive
Retinal vascular tortuosity, Optic atrophy OMIM:618768
Retinitis Pigmentosa 43
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst... OMIM:613810
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Retinal arteriolar constriction, Optic atrophy OMIM:249660
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy ORPHA:440727
Leukoencephalopathy With Vanishing White Matter 2
Optic atrophy OMIM:620312
Retinitis Pigmentosa 72
Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr... OMIM:616469
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Peripheral axonal neuropathy, Optic atrophy OMIM:620221
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Optic atrophy ORPHA:2787
Leukoencephalopathy With Vanishing White Matter 4
Optic atrophy OMIM:620314
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Optic atrophy, Facial palsy ORPHA:178377
Spondylometaphyseal Dysplasia, Axial
Cone/cone-rod dystrophy, Rod-cone dystrophy, Optic atrophy, Retinal degeneration OMIM:602271
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:613983
Early-Onset X-Linked Optic Atrophy
Decreased nerve conduction velocity, Optic disc pallor, Optic atrophy ORPHA:98890
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... OMIM:600132
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
Spinocerebellar Ataxia 7
Macular degeneration, Optic atrophy, Pigmentary retinopathy OMIM:164500
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Peripheral axonal neuropathy, Optic atrophy OMIM:619425
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Optic atrophy OMIM:619052
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Optic disc pallor OMIM:616732
Amaurosis-Hypertrichosis Syndrome
Cone/cone-rod dystrophy, Optic atrophy, Retinal dystrophy ORPHA:1021
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Retrobulbar optic neuritis, Optic atrophy ORPHA:3151
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic disc pallor, Optic atrophy OMIM:612989
Seizures, Cortical Blindness, And Microcephaly Syndrome
Optic atrophy OMIM:616632
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To
Nonarteritic anterior ischemic optic neuropathy OMIM:258660
Opticocochleodentate Degeneration
Optic atrophy OMIM:258700
Wildervanck Syndrome
Pseudopapilledema OMIM:314600
Optic Atrophy 8
Optic atrophy, Prolonged somatosensory evoked potentials, Abnormal auditory evoked potentials OMIM:616648
Retinitis Pigmentosa 66
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615233
Leber Congenital Amaurosis 16
Optic disc pallor OMIM:614186
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Optic atrophy, Chorioretinal coloboma ORPHA:1473
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Null Syndrome
Decreased nerve conduction velocity, Optic atrophy, Peripheral demyelination, Abnormality of peri... ORPHA:280234
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Sarcosinemia
Hypersarcosinemia, Optic atrophy ORPHA:3129
Retinal Dystrophy And Microvillus Inclusion Disease
Optic disc pallor OMIM:619446
Juvenile Glaucoma
Optic neuropathy, Retinal arterial occlusion, Retinal vein occlusion, Abnormal optic nerve morpho... ORPHA:98977
Mitochondrial Complex I Deficiency, Nuclear Type 36
Hyperalaninemia, Optic disc pallor, Hyperprolinemia OMIM:619170
Hsd10 Mitochondrial Disease
Elevated circulating tiglylglycine concentration, Optic atrophy, Retinal degeneration OMIM:300438
Leber Optic Atrophy
Central retinal vessel vascular tortuosity, Optic atrophy, Leber optic atrophy, Optic neuropathy OMIM:535000
Late-Onset Retinal Degeneration
Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr... ORPHA:67042
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Jalili Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1873
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Decreased serum iron, Epi... OMIM:616959
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Optic atrophy ORPHA:1528
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Rod-cone dystrophy, Macular atrophy OMIM:615434
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Optic atrophy, Abnormal retinal nerve fiber layer morphology... ORPHA:1215
Mitochondrial Complex I Deficiency, Nuclear Type 27
Optic atrophy OMIM:618248
Proximal Myopathy With Extrapyramidal Signs
Peripheral axonal neuropathy, Optic atrophy, Mildly elevated creatine kinase ORPHA:401768
Glaucoma, Primary Closed-Angle
Increased cup-to-disc ratio OMIM:618880
Juvenile Paget Disease
Abnormality of retinal pigmentation, Optic atrophy, Hyperuricemia ORPHA:2801
Posterior Column Ataxia With Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Optic atrop... OMIM:609033
Wildervanck Syndrome
Pseudopapilledema, Facial palsy ORPHA:3456
Retinitis Pigmentosa 74
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Optic atrophy, Motor axonal neuropathy, Sensory axonal neuropathy OMIM:609541
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... ORPHA:448237
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... ORPHA:320406
Aniridia 2
Optic atrophy OMIM:617141
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic atrophy OMIM:268315
Muscle-Eye-Brain Disease
Optic atrophy, Elevated circulating creatine kinase concentration ORPHA:588
Osteopetrosis, Autosomal Recessive 4
Optic disc pallor, Optic atrophy, Facial palsy OMIM:611490
Osteopetrosis, Autosomal Recessive 9
Papilledema, Elevated circulating creatinine concentration, Hyperkalemia OMIM:620366
Madras Motor Neuron Disease
Optic atrophy, Facial palsy ORPHA:137867
Papilloma Of Choroid Plexus
Papilledema OMIM:260500
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Facial palsy OMIM:615085
Mitochondrial Complex I Deficiency, Nuclear Type 28
Hyperalaninemia, Optic atrophy, Optic disc pallor, Optic neuropathy OMIM:618249
Leber Congenital Amaurosis 15
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg... OMIM:613843
Combined Oxidative Phosphorylation Deficiency 29
Retinopathy, Axonal degeneration, Optic atrophy, Optic neuropathy OMIM:616811
Chromosome Xp11.3 Deletion Syndrome
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels OMIM:300578
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Pigmentary retinopathy, Retinal dysplasia, Optic atrophy, Elevated circulating creatine kinase co... OMIM:613154
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Mildly elevated creatine kinase, Elevated circulating alpha-fetoprotein concentration ORPHA:95433
Norrie Disease
Retinal detachment, Retinal fold, Optic atrophy, Retinal dysplasia OMIM:310600
Fuchs Heterochromic Iridocyclitis
Papilledema, Optic disc pallor, Retinal perforation, Vitreous floaters, Epiretinal membrane, Chor... ORPHA:263479
Joubert Syndrome 8
Optic disc pallor, Pigmentary retinopathy OMIM:612291
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Choroidal neovascularization, Optic neuropathy, Retinal crystals, Optic atrophy, R... OMIM:259900
Wolfram Syndrome 2
Optic atrophy, Optic neuropathy OMIM:604928
Peroxisome Biogenesis Disorder 1B
Hyperoxaluria, Rod-cone dystrophy, Optic atrophy OMIM:601539
Peroxisome Biogenesis Disorder 4B
Decreased nerve conduction velocity, Optic atrophy, Rod-cone dystrophy, Retinal dystrophy OMIM:614863
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Papilledema, Retinal calcification, Hyperphosphatemia, Hypocalcemia OMIM:127000
Sympathetic Ophthalmia
Retinal detachment, Papilledema, Vitreous floaters, Vitritis, Retinal hemorrhage, Macular edema, ... ORPHA:79098
Stankiewicz-Isidor Syndrome
Abnormal optic disc morphology OMIM:617516
Bardet-Biedl Syndrome 20
Retinal vascular tortuosity, Hypercholesterolemia, Papilledema, Rod-cone dystrophy OMIM:619471
Temtamy Preaxial Brachydactyly Syndrome
Abnormal optic disc morphology, Optic atrophy ORPHA:363417
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Congenital stationary night blindness, Abnormal optic disc morphology ORPHA:293967
Cancer-Associated Retinopathy
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa... ORPHA:71505
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Abnormal optic disc morphology, Subretinal deposits, Retinal dystrophy ORPHA:397715
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Abnormal optic disc morphology, Facial palsy, Retinal coloboma, Optic nerve hypoplasia ORPHA:508498
7Q11.23 Microduplication Syndrome
Abnormal optic disc morphology ORPHA:96121

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 Nmt2

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 Nmt2.

No publications found that use IMPC mice or data for Nmt2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Nmt2tm2b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Nmt2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Nmt2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Nmt2tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Nmt2tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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