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Gene: Asic2 MGI:1100867

Gene Summary

Name:

acid-sensing ion channel 2

Synonyms:

BNC1, BNaC1a, Mdeg, Accn1

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
increased freezing behavior	Asic2^em1(IMPC)Mbp	HOM	Early adult	7.53×10^-14
small kidney	Asic2^em1(IMPC)Mbp	HOM	Early adult	0.00
small spleen	Asic2^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal kidney morphology	Asic2^em1(IMPC)Mbp	HOM	Early adult	0.00

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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 Dorso Ventral

40 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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Human diseases caused by Asic2 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.

Human diseases associated with Asic2 (0 diseases)
Human diseases predicted to be associated with Asic2 (328 diseases)

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

The table below shows human diseases predicted to be associated to Asic2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Stargardt Disease 1	Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy	OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole	Reticular pigmentary degeneration, Drusen, Retinal dystrophy	OMIM:267800
Macular Degeneration, Age-Related, 13	Choroidal neovascularization, Macular degeneration, Macular scar, Drusen	OMIM:615439
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
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
Atrophia Maculosa Varioliformis Cutis, Familial	Macular atrophy	OMIM:601341
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 48	Macular degeneration, Rod-cone dystrophy	OMIM:613827
Doyne Honeycomb Retinal Dystrophy	Reticular pigmentary degeneration, Retinal dystrophy	OMIM:126600
Macular Dystrophy, Patterned, 3	Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy	OMIM:617111
Retinitis Pigmentosa 36	Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti...	OMIM:610599
Cone-Rod Dystrophy 7	Bull's eye maculopathy, Macular atrophy, Retinal flecks, Cone/cone-rod dystrophy	OMIM:603649
Retinal Degeneration And Epilepsy	Retinal degeneration	OMIM:267740
Exudative Vitreoretinopathy 7	Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold	OMIM:617572
Retinoschisis 1, X-Linked, Juvenile	Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,...	OMIM:312700
Macular Degeneration, Early-Onset	Choroidal neovascularization, Macular degeneration	OMIM:616118
Night Blindness, Congenital Stationary, Type 1D	Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne...	OMIM:613830
Stargardt Disease 4	Macular degeneration, Retinal flecks	OMIM:603786
Stargardt Disease 3	Macular atrophy, Macular dystrophy, Macular flecks	OMIM:600110
Macular Degeneration, Atrophic, X-Linked	Macular degeneration	OMIM:300834
Retinitis Pigmentosa 31	Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy	OMIM:609923
Macular Dystrophy, Retinal, 1, North Carolina Type	Abnormality of macular pigmentation, Drusen, Macular dystrophy, Peripheral retinal atrophy	OMIM:136550
Late-Onset Retinal Degeneration	Choroidal neovascularization, Retinopathy, Retinal degeneration, Chorioretinal degeneration, Sub-...	OMIM:605670
Macular Dystrophy, Retinal, 2	Granular macular appearance, Perifoveal ring of hyperautofluorescence, Macular dystrophy, Retinal...	OMIM:608051
Macular Dystrophy, Vitelliform, 2	Cystoid macular degeneration, Macular dystrophy, Subretinal fluid	OMIM:153700
Leber Congenital Amaurosis 19	Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration	OMIM:618513
Sorsby Pseudoinflammatory Fundus Dystrophy	Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H...	ORPHA:59181
Retinopathy, Pericentral Pigmentary, Dominant	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ...	OMIM:180210
Cone-Rod Dystrophy 22	Hypoautofluorescent retinal lesion, Hyperautofluorescent macular lesion, Attenuation of retinal b...	OMIM:619531
Macular Degeneration, Age-Related, 1	Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, Macular hemorrhage, ...	OMIM:603075
Cone-Rod Dystrophy 11	Macular degeneration, Cone/cone-rod dystrophy, Macular atrophy, Bull's eye maculopathy	OMIM:610381
Retinitis Pigmentosa 70	Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro...	OMIM:615922
Retinal Cone Dystrophy 1	Retinal degeneration, Bull's eye maculopathy, Cone/cone-rod dystrophy	OMIM:180020
Hyperleucine-Isoleucinemia	Retinal degeneration	OMIM:238340
Retinitis Pigmentosa 33	Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,...	OMIM:610359
Senior-Loken Syndrome 7	Retinal degeneration	OMIM:613615
Retinitis Pigmentosa 32	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor...	OMIM:609913
Joubert Syndrome 13	Molar tooth sign on MRI	OMIM:614173
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ...	OMIM:618889
Bothnia Retinal Dystrophy	Macular degeneration, Retinal dystrophy	OMIM:607475
Retinitis Pigmentosa 81	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:617871
Peripheral Cone Dystrophy	Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy	OMIM:609021
Stargardt Disease	Abnormality of macular pigmentation, Macular degeneration, Retinal pigment epithelial mottling, R...	ORPHA:827
Bothnia Retinal Dystrophy	Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mottling, Abnormal choro...	ORPHA:85128
Wagner Vitreoretinopathy	Peripheral tractional retinal detachment, Optic atrophy, Exudative vitreoretinopathy, Vitreoretin...	OMIM:143200
Retinitis Pigmentosa 11	Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,...	OMIM:600138
Central Areolar Choroidal Dystrophy	Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyperautofluorescent macular...	ORPHA:75377
Retinitis Pigmentosa 13	Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat...	OMIM:600059
Optic Atrophy 6	Optic atrophy, Retinal degeneration	OMIM:258500
Familial Drusen	Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi...	ORPHA:75376
Retinitis Pigmentosa 68	Retinal atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615725
Retinitis Pigmentosa 38	Optic disc pallor, Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy	OMIM:613862
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Retinal degeneration	OMIM:251700
Best Vitelliform Macular Dystrophy	Cystoid macular degeneration, Choroideremia	ORPHA:1243
Ceroid Lipofuscinosis, Neuronal, 6A	Retinal degeneration	OMIM:601780
Leber Congenital Amaurosis With Early-Onset Deafness	Peripapillary atrophy, Retinal pigment epithelial mottling, Retinal degeneration	OMIM:617879
Bestrophinopathy, Autosomal Recessive	Retinal pigment epithelial atrophy, Retinal flecks	OMIM:611809
Cone-Rod Dystrophy 5	Macular degeneration, Retinal pigment epithelial mottling, Cone/cone-rod dystrophy	OMIM:600977
Usher Syndrome, Type Iv	Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re...	OMIM:618144
Retinitis Pigmentosa 90	Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret...	OMIM:619007
Retinitis Pigmentosa 4	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spicule pigme...	OMIM:613731
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Cystoid macular degeneration, Retinal degeneration, Macular atrophy	OMIM:267760
Exudative Vitreoretinopathy 3	Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold	OMIM:605750
Retinitis Pigmentosa 88	Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule p...	OMIM:618826
Macular Dystrophy, Vitelliform, 3	Vitelliform-like macular lesions, Choroidal neovascularization, Macular dystrophy, Drusen, Macula...	OMIM:608161
Retinal Dystrophy And Obesity	Attenuation of retinal blood vessels, Retinal dots, Peripapillary atrophy, Retinal detachment, Re...	OMIM:616188
Retinitis Pigmentosa 73	Epiretinal membrane, Peripapillary atrophy, Retinal atrophy, Bone spicule pigmentation of the ret...	OMIM:616544
Cone-Rod Dystrophy 24	Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Cone/cone-rod...	OMIM:620342
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H	Macular degeneration	OMIM:619764
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Subretinal deposits, Macular degeneration, Choriocapillaris atrophy	OMIM:601553
Cone Dystrophy 3	Macular atrophy, Cone/cone-rod dystrophy	OMIM:602093
Retinitis Pigmentosa 19	Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,...	OMIM:601718
Pandas	Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t...	ORPHA:66624
Retinitis Pigmentosa 84	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:618220
Cone-Rod Dystrophy 13	Macular degeneration, Cone/cone-rod dystrophy	OMIM:608194
Central Retinal Vein Occlusion	Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti...	ORPHA:411527
Retinitis Pigmentosa 27	Peripapillary chorioretinal atrophy, Macular edema, Attenuation of retinal blood vessels, Chorior...	OMIM:613750
Intellectual Developmental Disorder And Retinitis Pigmentosa	Macular degeneration, Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule p...	OMIM:618195
Cone-Rod Dystrophy 16	Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sheen, Bone ...	OMIM:614500
Retinitis Pigmentosa 9	Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy	OMIM:180104
Ophthalmoplegia, External, And Myopia	Chorioretinal degeneration, Retinal degeneration	OMIM:311000
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Lattice retinal degeneration, Rhegmatogenous retinal detachment	OMIM:619248
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Central retinal exudate, Peripheral retinal degeneration, Retinal hemorrhage	OMIM:264420
Myopia, High, With Cataract And Vitreoretinal Degeneration	Lattice retinal degeneration, Retinal detachment, Vitreous floaters, Peripheral vitreoretinal deg...	OMIM:614292
Moyamoya Disease 1	Telangiectasia, Inflammatory arteriopathy	OMIM:252350
Retinitis Pigmentosa 86	Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,...	OMIM:618613
Oculorenocerebellar Syndrome	Retinal degeneration	OMIM:257970
Progressive Bifocal Chorioretinal Atrophy	Chorioretinal dystrophy, Pigmentary retinopathy, Macular atrophy	ORPHA:75373
Microphthalmia, Isolated 5	Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule pigmentat...	OMIM:611040
Bietti Crystalline Dystrophy	Pigmentary retinopathy, Retinal pigment epithelial mottling, Retinal thinning, Choriocapillaris a...	ORPHA:41751
Morm Syndrome	Retinal atrophy, Retinal dystrophy	ORPHA:75858
Vasculitis, Lymphocytic, Nodular	Nodular inflammatory vasculitis	OMIM:192310
Cone-Rod Dystrophy 21	Retinal dystrophy, Macular atrophy	OMIM:616502
Achromatopsia 7	Hypoplasia of the fovea, Absent foveal reflex, Macular atrophy	OMIM:616517
Retinitis Pigmentosa 77	Attenuation of retinal blood vessels, Cystoid macular edema, Retinal atrophy, Bone spicule pigmen...	OMIM:617304
Retinitis Pigmentosa 80	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy	OMIM:617781
Cone-Rod Dystrophy 15	Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy	OMIM:613660
Achromatopsia	Inner retinal layer loss on macular OCT, Retinal pigment epithelial mottling, Abnormal macular mo...	ORPHA:49382
Ceroid Lipofuscinosis, Neuronal, 2	Retinal degeneration	OMIM:204500
Vitreoretinal Degeneration, Snowflake Type	Snowflake vitreoretinal degeneration, Retinal detachment, Retinal dots, Optically empty vitreous	OMIM:193230
Ceroid Lipofuscinosis, Neuronal, 3	Optic atrophy, Macular degeneration, Rod-cone dystrophy, Retinal degeneration	OMIM:204200
X-Linked Neurodegenerative Syndrome, Bertini Type	Macular degeneration	ORPHA:85334
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:616108
Macular Dystrophy, Retinal, 3	Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati...	OMIM:608850
Spinocerebellar Ataxia, Autosomal Recessive 12	Optic atrophy, Retinal degeneration	OMIM:614322
Retinitis Pigmentosa 79	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:617460
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Retinal degeneration	OMIM:617173
Nephronophthisis 14	Retinal degeneration	OMIM:614844
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial atrophy, Hypoautofluorescent macular lesion, Retinal pigment epithelia...	OMIM:304020
Spondylometaphyseal Dysplasia, Axial	Optic atrophy, Retinal degeneration, Rod-cone dystrophy, Cone/cone-rod dystrophy	OMIM:602271
Retinitis Pigmentosa 10	Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re...	OMIM:180105
Oguchi Disease	Mizuo phenomenon, Macular degeneration, Rod-cone dystrophy, Congenital stationary night blindness	ORPHA:75382
Retinitis Pigmentosa 58	Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti...	OMIM:613617
Macular Degeneration, Age-Related, 3	Choroidal neovascularization, Macular degeneration, Drusen	OMIM:608895
Bardet-Biedl Syndrome 21	Retinal thinning, Hyperautofluorescent macular lesion, Cone/cone-rod dystrophy, Hypoplasia of the...	OMIM:617406
Retinitis Pigmentosa 41	Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Bone spicule ...	OMIM:612095
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Leber Congenital Amaurosis 4	Optic disc pallor, Attenuation of retinal blood vessels, Macular atrophy, Cone/cone-rod dystrophy	OMIM:604393
Ceroid Lipofuscinosis, Neuronal, 1	Optic atrophy, Macular degeneration, Retinal degeneration	OMIM:256730
Oliver-Mcfarlane Syndrome	Pigmentary retinopathy, Retinal degeneration	OMIM:275400
Bardet-Biedl Syndrome 16	Rod-cone dystrophy, Retinal degeneration	OMIM:615993
Bardet-Biedl Syndrome 4	Rod-cone dystrophy, Retinal degeneration	OMIM:615982
Reese Retinal Dysplasia	Retinal dysplasia, Remnants of the hyaloid vascular system	OMIM:266400
Birdshot Chorioretinopathy	Retinal pigment epithelial atrophy, Vitritis, Vitreous floaters, Abnormal chorioretinal morphology	OMIM:605808
Nephronophthisis 15	Retinal degeneration	OMIM:614845
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal pigment epithelial mottling, Peripheral retinal atrophy, Retinal thinning, Attenuation of...	OMIM:145350
Bardet-Biedl Syndrome 2	Rod-cone dystrophy, Retinal degeneration	OMIM:615981
Leber Congenital Amaurosis 9	Optic atrophy, Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Retinal...	OMIM:608553
Ravine Syndrome	Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem	ORPHA:99852
Diabetes And Deafness, Maternally Inherited	Pigmentary retinopathy, Retinal degeneration	OMIM:520000
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Pigmentary retinopathy, Retinal degeneration	ORPHA:3363
Retinitis Pigmentosa 56	Pigmentary retinopathy, Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pig...	OMIM:613581
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Absent foveal reflex, Peripheral retinal atrophy, Retinal dystrophy	OMIM:615147
Exudative Vitreoretinopathy 6	Exudative vitreoretinopathy, Retinal exudate, Posterior vitreous detachment, Tractional retinal d...	OMIM:616468
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal pigment epithelial mottling, Abnormal macular morphology, Attenuation of retinal blood ve...	ORPHA:364055
Retinitis Punctata Albescens	Pigmentary retinopathy, Retinal pigment epithelial mottling, Abnormality of fundus pigmentation, ...	ORPHA:52427
Cone-Rod Dystrophy 10	Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:610283
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis	ORPHA:208441
Cone-Rod Dystrophy 8	Macular degeneration, Retinal arteriolar constriction, Abnormal optic nerve morphology, Abnormali...	OMIM:605549
Retinitis Pigmentosa 51	Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:613464
Late-Onset Retinal Degeneration	Choroidal neovascularization, Macular degeneration, Multifocal subretinal deposits, Epiretinal me...	ORPHA:67042
Retinitis Pigmentosa 60	Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,...	OMIM:613983
Retinitis Pigmentosa 23	Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy, Abs...	OMIM:300424
Sjogren-Larsson Syndrome	Macular degeneration, Retinal thinning, Macular dots, Retinal pigment epithelial atrophy, Macular...	OMIM:270200
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Abetalipoproteinemia	Retinopathy, Retinal degeneration	OMIM:200100
Ceroid Lipofuscinosis, Neuronal, 5	Retinal degeneration	OMIM:256731
Spinocerebellar Ataxia 7	Optic atrophy, Pigmentary retinopathy, Macular degeneration	OMIM:164500
Hsd10 Mitochondrial Disease	Optic atrophy, Retinal degeneration	OMIM:300438
Poretti-Boltshauser Syndrome	Retinal atrophy, Retinal dystrophy, Retinal thinning	OMIM:615960
Mucolipidosis Iv	Optic atrophy, Retinal degeneration	OMIM:252650
Retinitis Pigmentosa And Erythrocytic Microcytosis	Macular edema, Peripheral retinal atrophy, Epiretinal membrane, Attenuation of retinal blood vess...	OMIM:616959
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome	Abnormal brainstem MRI signal intensity	ORPHA:263410
Gómez-López-Hernández Syndrome	Abnormal brainstem morphology	ORPHA:1532
Bardet-Biedl Syndrome 9	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:615986
Cone-Rod Dystrophy 2	Chorioretinal atrophy, Macular hyperpigmentation, Cone/cone-rod dystrophy, Bone spicule pigmentat...	OMIM:120970
Pontocerebellar Hypoplasia Type 10	Abnormal brainstem morphology	ORPHA:411493
Joubert Syndrome 25	Molar tooth sign on MRI	OMIM:616781
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Attenuation of retinal blood vessels, Retinal degeneration, Macular atrophy, Geographic atrophy, ...	OMIM:619260
Retinal Cone Dystrophy 3B	Macular atrophy, Cone/cone-rod dystrophy	OMIM:610356
Nephronophthisis 9	Retinal degeneration	OMIM:613824
Spastic Paraplegia 11, Autosomal Recessive	Macular degeneration, Retinal degeneration	OMIM:604360
20Q11.2 Microdeletion Syndrome	Brainstem dysplasia	ORPHA:444051
Cone-Rod Dystrophy And Hearing Loss 1	Retinal atrophy, Macular degeneration	OMIM:617236
Thiamine-Responsive Megaloblastic Anemia Syndrome	Optic atrophy, Retinal degeneration, Cone/cone-rod dystrophy	OMIM:249270
Acute Zonal Occult Outer Retinopathy	Abnormal fundus fluorescein angiography, Pigmentary retinopathy, Vitreous inflammatory cells, Mar...	ORPHA:284454
Lennox-Gastaut Syndrome	Abnormal brainstem morphology	ORPHA:2382
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic disc pallor, Optic atrophy, Retinopathy, Macular atrophy	OMIM:616171
Retinitis Pigmentosa 97	Macular degeneration, Rod-cone dystrophy	OMIM:620422
Bardet-Biedl Syndrome 17	Retinal degeneration, Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Rod-cone ...	OMIM:615994
Jalili Syndrome	Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Cone/cone-rod dystroph...	OMIM:217080
Sjögren-Larsson Syndrome	Abnormality of retinal pigmentation, Macular degeneration, Retinopathy	ORPHA:816
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Abnormal fear-induced behavior, Irritability, Aggressive behavior, Hyperactivity, Anorexia, Abnor...	ORPHA:3077
Alg6-Cdg	Rod-cone dystrophy, Retinal degeneration	ORPHA:79320
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Optic atrophy, Retinal degeneration	OMIM:616896
Juvenile Neuronal Ceroid Lipofuscinosis	Optic disc pallor, Pigmentary retinopathy, Retinal degeneration	ORPHA:79264
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Retinal atrophy	OMIM:616722
Ceroid Lipofuscinosis, Neuronal, 10	Retinal atrophy, Rod-cone dystrophy	OMIM:610127
Retinitis Pigmentosa	Optic atrophy, Attenuation of retinal blood vessels, Abnormality of retinal pigmentation, Retinal...	ORPHA:791
Hypotrichosis With Juvenile Macular Degeneration	Abnormality of macular pigmentation, Macular degeneration	ORPHA:1573
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Retinal atrophy, Retinal dystrophy	ORPHA:370022
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Abnormal brainstem morphology	ORPHA:255182
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Choroidal neovascularization, Macular degeneration	ORPHA:404451
Spastic Paraplegia 15, Autosomal Recessive	Macular degeneration, Retinal degeneration	OMIM:270700
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Optic disc pallor, Rod-cone dystrophy, Macular atrophy	OMIM:615434
Developmental And Epileptic Encephalopathy 28	Optic atrophy, Retinal degeneration	OMIM:616211
Senior-Loken Syndrome 9	Macular degeneration, Rod-cone dystrophy, Retinal dystrophy	OMIM:616629
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Undetectable visual evoked potentials, Patchy atrophy of the retinal pigment epithelium, Rod-cone...	ORPHA:436245
Bietti Crystalline Corneoretinal Dystrophy	Chorioretinal atrophy, Retinal degeneration	OMIM:210370
Hsd10 Disease, Infantile Type	Optic atrophy, Rod-cone dystrophy, Retinal degeneration	ORPHA:391428
Lissencephaly Syndrome, Norman-Roberts Type	Hypoplastic spleen, Dysphagia	ORPHA:89844
Polymicrogyria Due To Tubb2B Mutation	Abnormal brainstem morphology, Hypoplasia of the pons	ORPHA:300573
Leber Congenital Amaurosis 15	Pigmentary retinopathy, Attenuation of retinal blood vessels, Peripapillary atrophy, Dull foveal ...	OMIM:613843
Late Infantile Neuronal Ceroid Lipofuscinosis	Abnormal amplitude of flash visual evoked potentials, Abnormality of visual evoked potentials, Re...	ORPHA:168491
Retinitis Pigmentosa 37	Cystoid macular degeneration, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:611131
Hypobetalipoproteinemia, Familial, 1	Rod-cone dystrophy, Retinal degeneration	OMIM:615558
Refsum Disease, Classic	Rod-cone dystrophy, Retinal degeneration	OMIM:266500
Non-Specific Early-Onset Epileptic Encephalopathy	Optic atrophy, Retinal degeneration	ORPHA:442835
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal dystrophy, Retinal detachment, Chorioretinal coloboma, Macular atrophy	OMIM:212550
Tubulinopathy-Associated Dysgyria	Abnormal brainstem morphology, Hypoplasia of the pons	ORPHA:467166
Aceruloplasminemia	Retinal degeneration	OMIM:604290
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w...	OMIM:619313
Joubert Syndrome 7	Brainstem dysplasia, Molar tooth sign on MRI, Hypoplasia of the brainstem	OMIM:611560
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Abnormality of pattern visual evoked potentials, Rod-cone dystrophy, Retinal degeneration	ORPHA:166035
Porphyria Due To Ala Dehydratase Deficiency	Depression, Restlessness, Abnormal fear-induced behavior, Purple urine, Increased urinary porphob...	ORPHA:100924
Cone-Rod Dystrophy 6	Attenuation of retinal blood vessels, Chorioretinal atrophy, Cone/cone-rod dystrophy, Bone spicul...	OMIM:601777
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Midline brainstem cleft, Hypoplasia of the pons	OMIM:617542
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Retinal degeneration	OMIM:615630
Stormorken Syndrome	Howell-Jolly bodies, Hematuria, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen	OMIM:185070
Gracile Bone Dysplasia	Micropenis, Asplenia, Hypoplastic spleen	OMIM:602361
Septopreoptic Holoprosencephaly	Abnormal midbrain morphology, Hypoplasia of the pons	ORPHA:280195
Paget Disease Of Bone 5, Juvenile-Onset	Angioid streaks of the fundus, Retinopathy, Macular scar, Retinal degeneration	OMIM:239000
Joubert Syndrome 6	Chorioretinal coloboma, Retinal degeneration	OMIM:610688
Axial Spondylometaphyseal Dysplasia	Optic atrophy, Peripheral retinal degeneration, Rod-cone dystrophy, Retinal dystrophy	ORPHA:168549
Choroidal Atrophy-Alopecia Syndrome	Patchy atrophy of the retinal pigment epithelium, Abnormality of retinal pigmentation	ORPHA:1433
Congenital Muscular Dystrophy With Cerebellar Involvement	Abnormal brainstem morphology, Hypoplasia of the brainstem, Hypoplasia of the pons, Olivopontocer...	ORPHA:370959
Pseudoxanthoma Elasticum	Choroidal neovascularization, Macular degeneration, Angioid streaks of the fundus, Retinal peau d...	OMIM:264800
Zika Virus Disease	Retinal pigment epithelial mottling, Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic...	ORPHA:448237
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Retinal degeneration	ORPHA:542306
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Abnormal brainstem morphology	ORPHA:79279
Spinocerebellar Ataxia Type 1	Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem	ORPHA:98755
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Retinal degeneration	OMIM:615249
Macrophthalmia, Colobomatous, With Microcornea	Optic disc coloboma, Chorioretinal coloboma, Macular atrophy	OMIM:602499
Scheie Syndrome	Retinal degeneration	OMIM:607016
Familial Acute Necrotizing Encephalopathy	Abnormal brainstem morphology, Abnormal brainstem MRI signal intensity	ORPHA:88619
Aceruloplasminemia	Macular degeneration, Abnormality of retinal pigmentation, Retinal degeneration	ORPHA:48818
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Macular degeneration	ORPHA:284289
Combined Oxidative Phosphorylation Deficiency 59	Retinal degeneration	OMIM:620646
Pantothenate Kinase-Associated Neurodegeneration	Optic atrophy, Pigmentary retinopathy, Bull's eye maculopathy, Retinal flecks, Retinal degenerati...	ORPHA:157850
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Abnormal brainstem morphology	ORPHA:163961
Mirage Syndrome	Hypospadias, Microphallus, Lymphopenia, Leukopenia, Thrombocytopenia, Anemia, Hypoplastic spleen	OMIM:617053
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Abnormal brainstem morphology, Abnormal pons morphology	ORPHA:370997
Lissencephaly 9 With Complex Brainstem Malformation	Enlarged tectum, Hypoplasia of the pons, Hypoplasia of the brainstem	OMIM:618325
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Macular degeneration	OMIM:619780
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Hypoautofluorescent retinal lesion, Rod-cone dystrophy, Retinal degeneration	OMIM:250410
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Retinal thinning, Abnormality of retinal pigmentation, Cone/cone-rod dystrophy, Retinal atrophy, ...	ORPHA:85167
Microphthalmia, Syndromic 9	Renal hypoplasia, Multilobulated spleen, Horseshoe kidney, Hydronephrosis, Hypoplastic spleen, Pe...	OMIM:601186
Familial Cerebral Saccular Aneurysm	Abnormal brainstem morphology	ORPHA:231160
Bardet-Biedl Syndrome 1	Hyperautofluorescent macular lesion, Attenuation of retinal blood vessels, Retinal degeneration, ...	OMIM:209900
Pyruvate Dehydrogenase E2 Deficiency	Retinal degeneration	ORPHA:79244
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Abnormality of macular pigmentation, Optic disc coloboma, Retinal thinning, Cone/cone-rod dystrop...	OMIM:608940
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Retinal atrophy	ORPHA:412057
Papillorenal Syndrome	Macular degeneration, Optic disc coloboma, Retinal coloboma, Chorioretinal atrophy, Macular hyper...	OMIM:120330
Mucolipidosis Iii Alpha/Beta	Retinopathy, Retinal degeneration	OMIM:252600
Ethylmalonic Encephalopathy	Abnormal brainstem MRI signal intensity	ORPHA:51188
Ciliary Dyskinesia, Primary, 53	Abdominal situs inversus, Hypoplastic spleen, Polysplenia	OMIM:620642
Nephronophthisis 11	Retinal degeneration	OMIM:613550
Multiple Sulfatase Deficiency	Retinal degeneration	OMIM:272200
Autosomal Recessive Spastic Paraplegia Type 11	Abnormality of pattern visual evoked potentials, Retinal degeneration	ORPHA:2822
Pearson Syndrome	Bone marrow hypocellularity, Glycosuria, Exocrine pancreatic insufficiency, Pancytopenia, Abnorma...	ORPHA:699
Senior-Loken Syndrome 8	Retinal dystrophy, Rod-cone dystrophy, Macular atrophy	OMIM:616307
Pseudoxanthoma Elasticum, Forme Fruste	Retinal hemorrhage, Macular degeneration, Angioid streaks of the fundus	OMIM:177850
Kniest Dysplasia	Vitreoretinopathy, Retinal detachment, Rhegmatogenous retinal detachment, Lattice retinal degener...	ORPHA:485
Mannosidosis, Alpha B, Lysosomal	Retinal degeneration	OMIM:248500
Adult Krabbe Disease	Abnormal midbrain morphology, Abnormal medulla oblongata morphology, Abnormal pons morphology	ORPHA:206448
Werner Syndrome	Retinal degeneration	OMIM:277700
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Optic atrophy, Pigmentary retinopathy, Abnormality of macular pigmentation, Retinal degeneration,...	ORPHA:79282
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Optic atrophy, Hypoplasia of the retina, Retinal degeneration, Retinal atrophy, Enlarged flash vi...	OMIM:253280
Hurler Syndrome	Retinal degeneration	OMIM:607014
Maternal Uniparental Disomy Of Chromosome 2	Retinal degeneration	ORPHA:96179
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Inappropriate behavior	ORPHA:309246
Trichothiodystrophy	Macular degeneration, Retinal degeneration	ORPHA:33364
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Abnormal brainstem MRI signal intensity	ORPHA:83629
Mucopolysaccharidosis Type 3	Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Retinal degeneration	ORPHA:581
Cockayne Syndrome Type 3	Retinal degeneration, Retinal atrophy, Retinal hemorrhage, Optic disc pallor, Retinal dystrophy	ORPHA:90324
Cockayne Syndrome	Optic atrophy, Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of retinal pi...	ORPHA:191
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Optic atrophy, Retinal atrophy, Retinal detachment, Retinal dysplasia, Optic nerve hypoplasia	OMIM:236670
Joubert Syndrome 2	Hypoplasia of the brainstem, Brainstem dysplasia, Elongated superior cerebellar peduncle, Thicken...	OMIM:608091
Pituitary Adenoma 4, Acth-Secreting	Abnormal fear-induced behavior, Emotional lability, Nephrolithiasis	OMIM:219090
Cancer-Associated Retinopathy	Optic atrophy, Foveal hyporeflective spaces on macular OCT, Retinal atrophy, Granular macular app...	ORPHA:71505
Slc35A2-Cdg	Abnormal midbrain morphology, Atrophy/Degeneration affecting the brainstem	ORPHA:356961
Mucopolysaccharidosis Type 2	Optic atrophy, Retinopathy, Abnormality of retinal pigmentation, Retinal degeneration, Papilledem...	ORPHA:580
Knobloch Syndrome	Abnormal vitreous humor morphology, Macular degeneration, Retinal detachment, Vitreoretinopathy	ORPHA:1571
47,Xyy Syndrome	Abnormal brainstem morphology	ORPHA:8
Oculocerebral Hypopigmentation Syndrome, Preus Type	Abnormal brainstem morphology	ORPHA:2720
Cockayne Syndrome A	Optic atrophy, Pigmentary retinopathy, Retinal pigment epithelial mottling, Retinal atrophy, Abno...	OMIM:216400
Combined Oxidative Phosphorylation Defect Type 23	Abnormal brainstem MRI signal intensity	ORPHA:444013
Gangliocytoma	Abnormal brainstem morphology	ORPHA:251937
Joubert Syndrome 1	Brainstem dysplasia, Elongated superior cerebellar peduncle, Molar tooth sign on MRI, Hypoplasia ...	OMIM:213300
Alkuraya-Kucinskas Syndrome	Kinked brainstem, Hypoplasia of the brainstem	OMIM:617822
Spinocerebellar Ataxia Type 7	Macular degeneration, Abnormal fundus morphology, Cone/cone-rod dystrophy	ORPHA:94147
Farber Disease	Macular degeneration, Cherry red spot of the macula	ORPHA:333
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Retinal degeneration	OMIM:208500
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Abnormal brainstem morphology	OMIM:301310
Combined Oxidative Phosphorylation Defect Type 7	Abnormal brainstem MRI signal intensity	ORPHA:254930
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Macular degeneration	ORPHA:247234
Neurodegeneration With Brain Iron Accumulation 1	Optic atrophy, Pigmentary retinopathy, Retinal degeneration	OMIM:234200
Cerebellar, Ocular, Craniofacial, And Genital Syndrome	Retinal degeneration	OMIM:618479
Paget Disease Of Bone 2, Early-Onset	Brain stem compression	OMIM:602080
Bohring-Opitz Syndrome	Optic atrophy, Retinal atrophy	ORPHA:97297
Alport Syndrome	Macular degeneration, Retinal flecks	ORPHA:63
Xq21 Microdeletion Syndrome	Optic atrophy, Reticular pigmentary degeneration, Choroideremia, Chorioretinal degeneration, Abno...	ORPHA:1435
Say-Barber-Miller Syndrome	Optic atrophy, Macular degeneration, Rod-cone dystrophy	ORPHA:3132
Cerebellar-Facial-Dental Syndrome	Abnormal midbrain morphology, Hypoplasia of the pons, Hypoplasia of the brainstem	ORPHA:444072
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Attenuation of retinal blood vessels, Rod-cone dystrophy, Macular degeneration, Retinal dystrophy	OMIM:266920
Japanese Encephalitis	Abnormal midbrain morphology, Abnormal substantia nigra morphology, Abnormal pons morphology	ORPHA:79139
Osteopetrosis With Renal Tubular Acidosis	Optic atrophy, Retinal atrophy, Abnormal retinal morphology	ORPHA:2785
Leigh Syndrome	Focal T2 hyperintense brainstem lesion, Abnormal brainstem MRI signal intensity	ORPHA:506
Atypical Werner Syndrome	Abnormality of retinal pigmentation, Retinal degeneration	ORPHA:79474
Fragile X-Associated Tremor/Ataxia Syndrome	Abnormal brainstem morphology	ORPHA:93256
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Self-injurious behavior, Hypospadias, Abnormal fear-induced behavior, Vesicoureteral reflux, Emot...	ORPHA:353281
Acute Disseminated Encephalomyelitis	Abnormal brainstem MRI signal intensity	ORPHA:83597
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Abnormal brainstem morphology	ORPHA:464311
Amoebiasis Due To Free-Living Amoebae	Abnormal midbrain morphology, Abnormal medulla oblongata morphology, Abnormal pons morphology, Ab...	ORPHA:68
X-Linked Cerebral Adrenoleukodystrophy	Abnormal brainstem white matter morphology	ORPHA:139396
Achondroplasia	Brain stem compression	OMIM:100800
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Pontocerebellar atrophy, Abnormal brainstem MRI signal intensity	ORPHA:258
Arima Syndrome	Brainstem dysplasia, Molar tooth sign on MRI, Hypoplasia of the brainstem	OMIM:243910
Duplication Of The Pituitary Gland	Abnormal midbrain morphology	ORPHA:314621
Tick-Borne Encephalitis	Abnormal medulla oblongata morphology, Abnormal brainstem MRI signal intensity	ORPHA:297
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Self-injurious behavior, Hypospadias, Abnormal fear-induced behavior, Vesicoureteral reflux, Emot...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Self-injurious behavior, Hypospadias, Abnormal fear-induced behavior, Vesicoureteral reflux, Emot...	ORPHA:353277
Arnold-Chiari Malformation Type I	Brain stem compression	ORPHA:268882
Stickler Syndrome	Lattice retinal degeneration, Abnormal vitreous humor morphology, Retinal detachment, Retinal hole	ORPHA:828
Semilobar Holoprosencephaly	Abnormal brainstem morphology	ORPHA:220386
Alobar Holoprosencephaly	Abnormal brainstem morphology	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Abnormal brainstem morphology	ORPHA:93926
Lobar Holoprosencephaly	Abnormal brainstem morphology	ORPHA:93924
Listeriosis	Abnormal brainstem MRI signal intensity	ORPHA:533
Meningioma	Brain stem compression	ORPHA:2495
Full Nf2-Related Schwannomatosis	Brain stem compression	ORPHA:637
Osteogenesis Imperfecta	Brain stem compression	ORPHA:666
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Abnormal midbrain morphology	ORPHA:293987
Alström Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Drusen, Retinal pigment epithelial atrophy, Retinal d...	ORPHA:64

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 Asic2

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 Asic2.

No publications found that use IMPC mice or data for Asic2.

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MGI Allele	Allele Type	Produced
Asic2^{tm33657(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Asic2^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Asic2 MGI:1100867

Gene Summary

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IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Human diseases caused by Asic2 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data