Gene Summary

Name:
FHF complex subunit HOOK interacting protein 2A
Synonyms:
Fam160b1

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
impaired glucose tolerance Fam160b1em1(IMPC)J HOM Early adult 7.82×10-06
persistence of hyaloid vascular system Fam160b1em1(IMPC)J HOM Early adult 1.86×10-13
abnormal optic disk morphology Fam160b1em1(IMPC)J HOM Early adult 1.47×10-06
abnormal bone structure Fam160b1em1(IMPC)J HOM   Early adult 9.93×10-05
decreased body length Fam160b1em1(IMPC)J HOM Early adult 3.30×10-05

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Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Electrocardiogram (ECG)

Waveform Image

16 Images

Auditory Brain Stem Response

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

8 Images

Human diseases caused by Fhip2a 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 Fhip2a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy, Abnormal oral glucose tolerance OMIM:311100
Retinitis Pigmentosa 57
Optic disc pallor, Cystoid macular edema, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613582
Wolfram-Like Syndrome, Autosomal Dominant
Optic atrophy, Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:614296
Leber Hereditary Optic Neuropathy, Modifier Of
Leber optic atrophy, Optic atrophy OMIM:308905
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degenerat... OMIM:610599
Macular Dystrophy With Central Cone Involvement
Optic disc pallor, Macular dystrophy, Bull's eye maculopathy OMIM:616170
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy OMIM:165510
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy OMIM:136600
Optic Atrophy 2
Optic atrophy OMIM:311050
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy OMIM:165199
Optic Atrophy 5
Optic atrophy OMIM:610708
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Optic atrophy, Macular atrophy, Cranial nerve compression OMIM:250450
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Liberfarb Syndrome
Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment... OMIM:618889
Isolated Oxycephaly
Coronal craniosynostosis, Papilledema, Sagittal craniosynostosis, Lambdoidal craniosynostosis ORPHA:63440
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Peripheral axonal neuropathy, Optic disc pallor OMIM:617087
Retinitis Pigmentosa 71
Optic disc pallor, Optic disc drusen, Rod-cone dystrophy, Attenuation of retinal blood vessels, P... OMIM:616394
Spastic Paraplegia 57, Autosomal Recessive
Optic atrophy OMIM:615658
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy ORPHA:2253
Glaucoma-Related Pigment Dispersion Syndrome
Optic atrophy OMIM:600510
Night Blindness, Congenital Stationary, Type 1G
Optic disc pallor, Congenital stationary night blindness OMIM:616389
Spastic Ataxia 7, Autosomal Dominant
Optic atrophy OMIM:108650
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor OMIM:165300
Ceroid Lipofuscinosis, Neuronal, 9
Optic atrophy, Rod-cone dystrophy OMIM:609055
Retinitis Pigmentosa 30
Optic atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Chorioretinal atrophy... OMIM:607921
Seizures, Cortical Blindness, And Microcephaly Syndrome
Optic atrophy OMIM:616632
Spastic Ataxia 4, Autosomal Recessive
Optic atrophy OMIM:613672
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... OMIM:610359
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... OMIM:147630
Retinitis Pigmentosa 38
Peripheral retinal atrophy, Macular atrophy, Optic disc pallor, Rod-cone dystrophy OMIM:613862
Olivopontocerebellar Atrophy-Deafness Syndrome
Optic atrophy, Chorioretinal coloboma ORPHA:2732
Wagner Vitreoretinopathy
Optic atrophy, Exudative vitreoretinopathy, Vitreoretinopathy, Optically empty vitreous, Retinal ... OMIM:143200
Spastic Paraplegia 74, Autosomal Recessive
Optic atrophy, Peripheral axonal neuropathy OMIM:616451
Retinohepatoendocrinologic Syndrome
Maturity-onset diabetes of the young, Optic disc pallor, Cone dystrophy OMIM:268040
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Optic atrophy from cranial nerve compressio... OMIM:239100
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Optic atrophy OMIM:618572
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy, Orbital craniosynostosis ORPHA:1538
Optic Atrophy 12
Optic atrophy, Optic disc pallor OMIM:618977
Retinitis Pigmentosa 63
Optic disc pallor, Rod-cone dystrophy OMIM:614494
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Optic atrophy, Craniosynostosis, Facial palsy, Increased bone mineral density ORPHA:178377
Birdshot Chorioretinopathy
Optic disc pallor, Photoreceptor layer loss on macular OCT, Vitreous floaters, Choroidal neovascu... ORPHA:179
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Optic atrophy, Optic disc pallor OMIM:615722
Multiple Mitochondrial Dysfunctions Syndrome 4
Optic atrophy OMIM:616370
Retinitis Pigmentosa 70
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy OMIM:615922
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Retinal dystrophy OMIM:614706
Cone-Rod Dystrophy 17
Optic disc pallor, Cone/cone-rod dystrophy OMIM:615163
Sclerosteosis
Optic atrophy, Facial palsy, Abnormal cortical bone morphology, Craniofacial hyperostosis, Increa... ORPHA:3152
Craniodiaphyseal Dysplasia, Autosomal Dominant
Optic atrophy, Facial diplegia, Diaphyseal sclerosis, Papilledema, Craniofacial hyperostosis, Cor... OMIM:122860
Retinitis Pigmentosa 32
Pigmentary retinopathy, Optic disc pallor, Retinal degeneration, Photoreceptor layer loss on macu... OMIM:609913
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Retinitis Pigmentosa 50
Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Retinal detachment, Attenuation of retinal... OMIM:613194
Retinitis Pigmentosa 62
Optic disc pallor, Rod-cone dystrophy OMIM:614181
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Optic atrophy, Osteoporosis ORPHA:2787
Retinitis Pigmentosa 11
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... OMIM:600138
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Peripapillary atrophy, Macular degeneration OMIM:618195
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia, Optic disc pallor, Retinal thinning OMIM:618970
Optic Atrophy With Demyelinating Disease Of Cns
Optic atrophy, Peripheral demyelination, Optic neuritis OMIM:165200
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic atrophy, Optic disc pallor OMIM:182830
Cherubism
Optic atrophy, Bone cyst ORPHA:184
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Chorioretinal coloboma, Retinal dystrophy, Iris coloboma, Remnants of the h... ORPHA:231736
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy ORPHA:2773
Optic Atrophy 6
Optic atrophy OMIM:258500
Cone-Rod Dystrophy 16
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... OMIM:614500
Irvan Syndrome
Optic atrophy, Tractional retinal detachment, Vitreous floaters, Macular edema, Retinal exudate, ... ORPHA:209943
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:610947
Retinitis Pigmentosa 26
Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:608380
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Optic nerve aplasia, Morning glo... OMIM:165550
Familial Exudative Vitreoretinopathy
Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Vitreoretino... ORPHA:891
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Infantile-Onset Spinocerebellar Ataxia
Optic atrophy, Abnormality of the autonomic nervous system ORPHA:1186
Leber Congenital Amaurosis 9
Optic atrophy, Macular coloboma, Optic disc pallor, Attenuation of retinal blood vessels OMIM:608553
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Retinal dystrophy, Optic disc pallor OMIM:616079
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Peripapillary atrophy, Hyperautofluorescent macular lesi... OMIM:617123
Autosomal Recessive Spastic Paraplegia Type 45
Optic atrophy ORPHA:320396
Autosomal Recessive Spastic Paraplegia Type 57
Abnormality of peripheral nerve conduction, Optic atrophy ORPHA:431329
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Craniodiaphyseal Dysplasia
Optic atrophy, Craniofacial hyperostosis ORPHA:1513
Optic Atrophy 9
Optic atrophy OMIM:616289
Striatonigral Degeneration, Infantile
Optic atrophy OMIM:271930
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Optic atrophy OMIM:611726
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration OMIM:614322
Retinitis Pigmentosa 78
Optic disc pallor, Cystoid macular edema OMIM:617433
Neurodegeneration With Brain Iron Accumulation
Optic atrophy, Retinopathy ORPHA:385
Camos Syndrome
Optic atrophy ORPHA:83472
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Retinopathy, Pigmentary retinopathy OMIM:610951
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Papilledema, Retinal arteriolar constriction OMIM:124950
Leber Congenital Amaurosis 4
Macular atrophy, Optic disc pallor, Cone/cone-rod dystrophy, Attenuation of retinal blood vessels OMIM:604393
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... OMIM:601718
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Optic atrophy OMIM:309555
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Macular atrophy, Optic disc pallor, Retinopathy OMIM:616171
Usher Syndrome, Type 1M
Optic disc pallor, Drusen OMIM:618632
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Auditory Neuropathy And Optic Atrophy
Optic atrophy, Rod-cone dystrophy OMIM:617717
Spastic Ataxia-Corneal Dystrophy Syndrome
Optic atrophy ORPHA:2572
Wolfram-Like Syndrome
Optic atrophy, Glucose intolerance, Peripheral axonal neuropathy, Diabetes mellitus ORPHA:411590
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Onion bulb formation, Optic atrophy, Decreased motor nerve conduction velocity, Axonal degenerati... OMIM:609260
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Optic atrophy, Peripheral axonal neuropathy ORPHA:496756
Autosomal Recessive Spastic Paraplegia Type 74
Optic atrophy, Peripheral axonal neuropathy ORPHA:468661
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Onion bulb formation, Optic atrophy, Rod-cone dystrophy, Segmental peripheral demyelination/remye... OMIM:311070
Retinal Dystrophy And Microvillus Inclusion Disease
Optic disc pallor, Osteopenia OMIM:619446
Spastic Paraplegia 45, Autosomal Recessive
Optic atrophy OMIM:613162
Spinocerebellar Ataxia, Autosomal Recessive 29
Peripheral axonal neuropathy, Optic disc pallor, Retinal pigment epithelial mottling OMIM:619389
Leber Hereditary Optic Neuropathy
Optic atrophy, Retinal vascular tortuosity, Retinal telangiectasia ORPHA:104
Spastic Paraplegia 55, Autosomal Recessive
Onion bulb formation, Optic atrophy, Peripheral axonal neuropathy OMIM:615035
Merrf
Optic atrophy ORPHA:551
Usher Syndrome, Type Iiib
Optic disc pallor OMIM:614504
Central Retinal Vein Occlusion
Intraretinal hemorrhage, Macular edema, Macular degeneration, Papilledema, Retinal neovasculariza... ORPHA:411527
Nescav Syndrome
Optic atrophy, Peripheral axonal neuropathy OMIM:614255
Developmental And Epileptic Encephalopathy 61
Optic atrophy OMIM:617933
Jalili Syndrome
Optic disc pallor, Cone/cone-rod dystrophy OMIM:217080
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Morning glory anomaly, Optic disc coloboma, Remnants of the hyaloid vascu... OMIM:120200
Cone-Rod Dystrophy, X-Linked, 3
Optic disc pallor, Retinal detachment, Abnormality of macular pigmentation, Absent foveal reflex,... OMIM:300476
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy OMIM:300928
Mitochondrial Complex I Deficiency, Nuclear Type 34
Optic atrophy, Optic disc pallor OMIM:618776
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia, Osteopenia OMIM:615363
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy ORPHA:85297
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Retinal degeneration OMIM:616211
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Optic disc pallor, Retinal fold, Retinal dystrophy, Choriore... OMIM:251270
Spastic Paraplegia 82, Autosomal Recessive
Optic atrophy OMIM:618770
Retinitis Pigmentosa 79
Macular atrophy, Optic disc pallor OMIM:617460
Early-Onset X-Linked Optic Atrophy
Optic atrophy, Optic disc pallor, Decreased nerve conduction velocity ORPHA:98890
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Optic atrophy, Peripheral axonal neuropathy OMIM:617207
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Neuroectodermal Melanolysosomal Disease
Aplasia/Hypoplasia of the macula, Optic atrophy, Macular dystrophy, Abnormality of the optic nerve ORPHA:33445
Dihydropyrimidine Dehydrogenase Deficiency
Coloboma, Optic atrophy OMIM:274270
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Optic atrophy ORPHA:1171
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Motor axonal neuropathy, Absent brainstem auditory res... ORPHA:1215
Leber Congenital Amaurosis 14
Retinal dystrophy, Optic disc pallor, Rod-cone dystrophy OMIM:613341
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Rod-cone dystrophy, Macular degeneration OMIM:204200
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Retinal degeneration, Rod-cone dystrophy OMIM:602271
Pontocerebellar Hypoplasia, Type 1E
Optic atrophy OMIM:619303
Hyperostosis Cranialis Interna
Optic atrophy, Hyperostosis cranialis interna, Osteosclerosis of the base of the skull, Facial pa... OMIM:144755
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Optic disc hypoplasia, Optic nerve hypoplasia, Peripheral vitreous opacit... ORPHA:137902
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Osteopetrosis, Facial palsy OMIM:615085
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Optic atrophy OMIM:619052
Retinitis Pigmentosa
Optic atrophy, Abnormality of retinal pigmentation, Type II diabetes mellitus, Abnormal retinal v... ORPHA:791
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Retinal detachment, Chorioretinal coloboma, Iris coloboma ORPHA:1473
Spastic Paraplegia 81, Autosomal Recessive
Optic atrophy, Retinal vascular tortuosity OMIM:618768
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Optic disc pallor OMIM:616732
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Juvenile Paget Disease
Optic atrophy, Abnormality of retinal pigmentation, Osteoporosis, Coarse metaphyseal trabeculariz... ORPHA:2801
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Retinal dysplasia OMIM:613154
Eales Disease
Rhegmatogenous retinal detachment, Optic disc pallor, Tractional retinal detachment, Vitreous flo... ORPHA:40923
Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects
Exudative vitreoretinopathy, Optic atrophy OMIM:615075
Schindler Disease, Type I
Optic atrophy, Osteopenia OMIM:609241
Leber Congenital Amaurosis 16
Optic disc pallor OMIM:614186
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Optic atrophy OMIM:617086
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Diabetes mellitus, Abnormal autonomic nervous system physiology OMIM:598500
Cone-Rod Dystrophy 3
Pigmentary retinopathy, Optic disc pallor, Bull's eye maculopathy, Attenuation of retinal blood v... OMIM:604116
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Optic atrophy, Retinal arteriolar constriction OMIM:249660
Short Chain Acyl-Coa Dehydrogenase Deficiency
Optic atrophy, Ketotic hypoglycemia ORPHA:26792
Combined Oxidative Phosphorylation Deficiency 10
Optic atrophy, Hypoglycemia OMIM:614702
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Macular atrophy, Optic disc pallor, Rod-cone dystrophy OMIM:615434
Retinitis Pigmentosa 49
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613756
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Optic atrophy, Peripheral axonal neuropathy OMIM:619425
Null Syndrome
Abnormality of peripheral nerve conduction, Optic atrophy, Peripheral demyelination, Decreased ne... ORPHA:280234
Retinitis Pigmentosa 46
Attenuation of retinal blood vessels, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:612572
3-Methylglutaconic Aciduria, Type Iii
Optic atrophy OMIM:258501
Retinitis Pigmentosa 41
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:612095
Craniotelencephalic Dysplasia
Optic atrophy, Craniosynostosis, Septo-optic dysplasia ORPHA:1528
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Retrobulbar optic neuritis, Optic atrophy ORPHA:3151
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic atrophy, Optic disc pallor OMIM:612989
Papilloma Of Choroid Plexus
Papilledema OMIM:260500
Hsd10 Mitochondrial Disease
Hypoglycemia, Optic atrophy, Retinal degeneration OMIM:300438
Gm1-Gangliosidosis, Type Ii
Optic atrophy OMIM:230600
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic atrophy OMIM:617282
Mitochondrial Complex I Deficiency, Nuclear Type 7
Optic atrophy OMIM:618229
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Osteopetrosis, Optic disc pallor, Facial palsy OMIM:611490
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Vitreoretinopathy, Abnormality of the optic disc, Retinal vascular tortuosity ORPHA:440727
Spinocerebellar Ataxia 7
Optic atrophy, Macular degeneration, Pigmentary retinopathy OMIM:164500
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Optic atrophy, Motor axonal neuropathy, Decreased nerve conduction velocity, Sensory axonal neuro... ORPHA:457205
Mitochondrial Complex I Deficiency, Nuclear Type 27
Optic atrophy OMIM:618248
Optic Atrophy 8
Prolonged somatosensory evoked potentials, Optic atrophy, Abnormal auditory evoked potentials OMIM:616648
Mitochondrial Complex I Deficiency, Nuclear Type 6
Optic atrophy OMIM:618228
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Chorioretinal atr... OMIM:602772
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Retinal dystrophy, Diabetes mellitus ORPHA:49827
Wildervanck Syndrome
Facial palsy, Pseudopapilledema, Lens subluxation ORPHA:3456
Wildervanck Syndrome
Pseudopapilledema OMIM:314600
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613617
Opticocochleodentate Degeneration
Optic atrophy OMIM:258700
Congenital Hydrocephalus
Optic atrophy, Macular hypoplasia, Iris coloboma ORPHA:2185
Retinitis Pigmentosa 72
Optic disc pallor, Peripapillary atrophy, Rod-cone dystrophy OMIM:616469
Retinitis Pigmentosa 10
Geographic atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:180105
Mitochondrial Complex I Deficiency, Nuclear Type 33
Optic atrophy, Hypoglycemia OMIM:618253
Behr Syndrome
Optic atrophy OMIM:210000
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormality of the optic disc ORPHA:65
Retinitis Pigmentosa 56
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dyst... OMIM:613581
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Optic atrophy OMIM:613151
Amaurosis-Hypertrichosis Syndrome
Optic atrophy, Retinal dystrophy, Cone/cone-rod dystrophy ORPHA:1021
Glycosylphosphatidylinositol Biosynthesis Defect 15
Optic atrophy, Osteopenia OMIM:617810
Mitochondrial Complex I Deficiency, Nuclear Type 14
Optic atrophy OMIM:618236
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Retinal degeneration, Diabetes mellitus, Cone/cone-rod dystrophy OMIM:249270
Retinitis Pigmentosa 43
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dyst... OMIM:613810
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Optic atrophy ORPHA:352682
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Motor axonal neuropathy, Optic atrophy, Optic disc pallor, Sensory axonal neuropathy OMIM:609541
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Optic atrophy, Retinal degeneration OMIM:214980
Juvenile Glaucoma
Abnormality of the optic nerve, Optic neuropathy, Temporal optic disc pallor, Increased cup-to-di... ORPHA:98977
Diencephalic Syndrome
Optic atrophy ORPHA:1672
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Optic atrophy OMIM:248000
X-Linked Charcot-Marie-Tooth Disease Type 5
Optic atrophy, Abnormal nerve conduction velocity ORPHA:99014
Norrie Disease
Optic atrophy, Retinal detachment, Retinal fold, Retinal dysplasia OMIM:310600
Leber Congenital Amaurosis 15
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy, Retinopathy, Pigmentary retinopathy OMIM:613843
Leber Optic Atrophy
Leber optic atrophy, Optic atrophy, Optic neuropathy, Central retinal vessel vascular tortuosity OMIM:535000
Osteopetrosis, Autosomal Recessive 2
Optic atrophy, Osteopetrosis, Cranial nerve compression, Diaphyseal sclerosis, Facial paralysis, ... OMIM:259710
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... OMIM:600132
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
Optic atrophy, Peripheral demyelination OMIM:258650
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Retinitis Pigmentosa 74
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Hypervitaminosis A, Susceptibility To
Papilledema OMIM:240150
Narp Syndrome
Retinal arteriolar tortuosity, Optic disc pallor, Retinal pigment epithelial mottling, Rod-cone d... ORPHA:644
Dysosteosclerosis
Optic atrophy, Abnormal cranial nerve morphology, Coarse metaphyseal trabecularization, Craniofac... ORPHA:1782
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Ost... ORPHA:371428
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Optic atrophy, Osteoporosis, Osteopenia ORPHA:529665
Coloboma, Ocular, Autosomal Recessive
Iris coloboma, Optic disc coloboma, Lens subluxation, Retinal coloboma OMIM:216820
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Optic atrophy, Impaired gluconeogenesis, Fasting hypoglycemia, Hypoglycemia OMIM:261680
Optic Pathway Glioma
Optic atrophy, Papilledema, Neurofibromas ORPHA:2086
Developmental And Epileptic Encephalopathy 93
Optic atrophy, Iris coloboma OMIM:618012
Coenzyme Q10 Deficiency, Primary, 2
Optic atrophy OMIM:614651
Jalili Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1873
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Attenuation of retinal blood vessels, Decreased sensory nerve conduction velocity,... OMIM:609033
Craniosynostosis And Dental Anomalies
Craniosynostosis, Papilledema, Coronal craniosynostosis, Sagittal craniosynostosis, Lambdoidal cr... OMIM:614188
Triple A Syndrome
Optic atrophy, Motor axonal neuropathy, Iris coloboma ORPHA:869
Wolfram Syndrome 2
Optic atrophy, Optic neuropathy, Diabetes mellitus OMIM:604928
Srd5A3-Cdg
Coloboma, Optic atrophy, Optic disc hypoplasia, Rod-cone dystrophy ORPHA:324737
Zika Virus Disease
Macular atrophy, Lens subluxation, Optic disc hypoplasia, Abnormality of the optic disc, Retinal ... ORPHA:448237
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Peripheral axonal neuropathy, Optic disc pallor, Decreased number of peripheral my... ORPHA:320406
Dermoid Cysts, Familial Frontonasal
Papilledema OMIM:600679
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Optic disc pallor, Cherry red spot of the macula OMIM:615281
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Optic disc pallor OMIM:618527
Craniometaphyseal Dysplasia, Autosomal Recessive
Facial hyperostosis, Optic atrophy, Facial palsy, Patchy sclerosis of finger phalanx OMIM:218400
Cerebral Visual Impairment
Optic atrophy, Optic disc pallor, Retinopathy of prematurity, Optic nerve hypoplasia, Neonatal hy... ORPHA:447788
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Optic atrophy ORPHA:254343
Amish Lethal Microcephaly
Optic atrophy, Osteoporosis, Decreased skull ossification ORPHA:99742
Leukodystrophy, Hypomyelinating, 2
Decreased motor nerve conduction velocity, Optic atrophy, Facial palsy, Sensory axonal neuropathy OMIM:608804
X-Linked Intellectual Disability, Najm Type
Optic atrophy, Optic nerve hypoplasia, Chorioretinal coloboma ORPHA:163937
Severe Early-Childhood-Onset Retinal Dystrophy
Rhegmatogenous retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Granul... ORPHA:364055
Chromosome 19P13.13 Deletion Syndrome
Optic atrophy, Optic nerve hypoplasia OMIM:613638
Madras Motor Neuron Disease
Optic atrophy, Facial palsy ORPHA:137867
Glaucoma, Primary Closed-Angle
Increased cup-to-disc ratio OMIM:618880
Neuronal Intranuclear Inclusion Disease
Optic atrophy ORPHA:2289
Retinitis Pigmentosa 66
Optic disc pallor, Rod-cone dystrophy OMIM:615233
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Osteopetrosis, Autosomal Recessive 1
Optic atrophy, Osteopetrosis, Craniosynostosis, Facial palsy, Calvarial osteosclerosis, Facial pa... OMIM:259700
Canavan Disease
Optic atrophy, Abnormality of retinal pigmentation ORPHA:141
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Optic atrophy OMIM:618688
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Optic atrophy, Decreased nerve conduction velocity, Rod-cone dystrophy OMIM:612674
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic atrophy, Optic disc pallor, Axonal degeneration/... OMIM:601152
Leber Optic Atrophy And Dystonia
Leber optic atrophy, Optic atrophy OMIM:500001
Mitochondrial Complex I Deficiency, Nuclear Type 19
Optic atrophy, Hypoglycemia OMIM:618241
Persistent Hyperplastic Primary Vitreous
Retinal fold, Tractional retinal detachment, Glial remnants anterior to the optic disc, Macular h... ORPHA:91495
Spinocerebellar Ataxia-Dysmorphism Syndrome
Optic atrophy, Reduced bone mineral density ORPHA:1185
Cerebellar Ataxia-Hypogonadism Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1173
Spinocerebellar Ataxia 13
Optic atrophy OMIM:605259
Friedreich Ataxia
Optic atrophy, Decreased sensory nerve conduction velocity, Diabetes mellitus, Decreased amplitud... OMIM:229300
Mitochondrial Complex I Deficiency, Nuclear Type 28
Optic atrophy, Optic neuropathy OMIM:618249
Combined Oxidative Phosphorylation Deficiency 7
Facial diplegia, Optic atrophy OMIM:613559
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Macular atrophy, Optic disc pallor, Retinal degeneration, Abnormal auditory evoked potentials, Ma... OMIM:619260
Wolfram Syndrome 1
Optic atrophy, Diabetes mellitus, Pigmentary retinopathy OMIM:222300
Roifman-Chitayat Syndrome
Optic atrophy, Osteopenia OMIM:613328
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Photoreceptor layer loss on macular OCT, Retinal pigment epithelial atrophy, E... OMIM:616959
Spinocerebellar Ataxia, Autosomal Recessive 28
Optic atrophy OMIM:618800
Spastic Paraplegia Type 2
Optic atrophy ORPHA:99015
Combined Oxidative Phosphorylation Deficiency 29
Optic atrophy, Optic neuropathy, Axonal degeneration, Retinopathy OMIM:616811
Sclerosteosis 1
Optic atrophy, Sclerotic scapulae, Facial palsy, Facial palsy secondary to cranial hyperostosis, ... OMIM:269500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Remnants of the hyaloid vascular system, Retinal detachment, Optic nerve hypoplasia, Retinal dysp... OMIM:614643
Sturge-Weber Syndrome
Optic atrophy, Hyperostosis, Iris coloboma, Abnormal retinal vascular morphology, Retinal detachm... ORPHA:3205
Marshall-Smith Syndrome
Optic atrophy, Craniosynostosis, Reduced bone mineral density ORPHA:561
Hyperoxaluria, Primary, Type I
Optic atrophy, Optic neuropathy, Retinal crystals, Choroidal neovascularization, Increased bone m... OMIM:259900
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Optic atrophy, Macular hypoplasia, Iris coloboma OMIM:615219
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Remnants of the hyaloid vascular system, Retinal nonattachment, Retinal fold, Iris coloboma OMIM:221900
Poems Syndrome
Sclerosis of foot bone, Sclerosis of hand bone, Papilledema, Diabetes mellitus, Sclerosis of skul... ORPHA:2905
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Optic atrophy, Osteopenia OMIM:617913
Dysosteosclerosis
Optic atrophy, Sclerotic scapulae, Sclerosis of hand bone, Osteopenia, Clavicular sclerosis, Faci... OMIM:224300
Neurofibromatosis Type 2
Abnormality of the optic nerve, Facial palsy, Peripheral Schwannoma, Bilateral vestibular Schwann... ORPHA:637
X-Linked Charcot-Marie-Tooth Disease Type 2
Decreased motor nerve conduction velocity, Optic neuropathy, Optic disc pallor ORPHA:101076
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Abnormally ossified vertebrae, Septo-optic dysplasia, Iris coloboma ORPHA:3301
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Insulin-resistant diabetes mellitus, Abnormality of the optic disc, Congenital stationary night b... ORPHA:293967
Crouzon Syndrome
Coronal craniosynostosis, Optic atrophy, Sagittal craniosynostosis, Lambdoidal craniosynostosis OMIM:123500
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Optic atrophy ORPHA:504476
Friedreich Ataxia
Decreased motor nerve conduction velocity, Optic atrophy, Diabetes mellitus, Sensory axonal neuro... ORPHA:95
Autosomal Recessive Spastic Paraplegia Type 55
Onion bulb formation, Optic atrophy, Optic neuropathy, Decreased sensory nerve conduction velocity ORPHA:320375
Peroxisome Biogenesis Disorder 1B
Optic atrophy, Rod-cone dystrophy, Epiphyseal stippling OMIM:601539
Joubert Syndrome 8
Optic disc pallor, Pigmentary retinopathy OMIM:612291
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Optic disc pallor, Decreased nerve conduction velocity ORPHA:485421
Hermansky-Pudlak Syndrome 8
Optic disc pallor, Hypoplasia of the fovea, Ocular albinism OMIM:614077
Osteopetrosis, Autosomal Recessive 7
Optic nerve compression, Optic atrophy, Osteopetrosis, Abnormal trabecular bone morphology OMIM:612301
Isolated Complex I Deficiency
Optic neuropathy, Optic disc pallor, Hypoglycemia, Diabetes mellitus ORPHA:2609
Oculo-Palato-Cerebral Syndrome
Remnants of the hyaloid vascular system, Retinal detachment ORPHA:2714
Kenny-Caffey Syndrome, Type 2
Retinal calcification, Papilledema, Thickened cortex of long bones, Increased bone mineral density OMIM:127000
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Optic atrophy, Diabetes mellitus, Osteopenia OMIM:614231
Temtamy Preaxial Brachydactyly Syndrome
Optic atrophy, Abnormality of the optic disc ORPHA:363417
Idiopathic Anterior Uveitis
Increased cup-to-disc ratio, Macular edema ORPHA:280914
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Optic atrophy, Motor axonal neuropathy, Abnormal autonomic nervous syste... OMIM:231550
Cerebrotendinous Xanthomatosis
Osteoporosis, Optic disc pallor, Abnormality of central somatosensory evoked potentials OMIM:213700
Peroxisome Biogenesis Disorder 4B
Optic atrophy, Retinal dystrophy, Decreased nerve conduction velocity, Rod-cone dystrophy OMIM:614863
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Optic atrophy OMIM:604121
Classic Homocystinuria
Optic atrophy, Abnormality of retinal pigmentation, Ectopia lentis, Osteoporosis, Retinal detachment ORPHA:394
Phace Association
Optic atrophy, Optic nerve hypoplasia, Horner syndrome, Increased retinal vascularity OMIM:606519
Primary Hyperoxaluria
Optic atrophy, Optic disc pallor, Generalized osteosclerosis, Choroidal neovascularization, Retin... ORPHA:416
Norrie Disease
Optic atrophy, Ectopia lentis, Abnormal retinal vascular morphology, Retinal detachment, Abnormal... ORPHA:649
Stankiewicz-Isidor Syndrome
Abnormality of the optic disc OMIM:617516
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Subretinal deposits, Retinal dystrophy, Abnormality of the optic disc, Early ossification of capi... ORPHA:397715
Autosomal Dominant Kenny-Caffey Syndrome
Retinal calcification, Cortical thickening of long bone diaphyses, Calvarial osteosclerosis, Papi... ORPHA:93325
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Retinal coloboma, Optic nerve hypoplasia, Abnormality of the optic disc, Facial palsy, Iris colob... ORPHA:508498
Von Hippel-Lindau Disease
Adrenal pheochromocytoma, Pancreatic endocrine tumor, Retinal capillary hemangioma, Macular edema... ORPHA:892
7Q11.23 Microduplication Syndrome
Craniosynostosis, Abnormality of the optic disc ORPHA:96121
Cancer-Associated Retinopathy
Optic atrophy, Optic disc pallor, Granular macular appearance, Retinal pigment epithelial atrophy... ORPHA:71505
Microphthalmia, Syndromic 2
Remnants of the hyaloid vascular system, Retinal detachment, Iris coloboma OMIM:300166
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Papilledema OMIM:108050
Neuroocular Syndrome
Remnants of the hyaloid vascular system, Lens coloboma, Hypoplasia of the fovea, Iris coloboma OMIM:619539
Pineoblastoma
Papilledema, Retinoblastoma ORPHA:251909

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 Fhip2a

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 Fhip2a.

No publications found that use IMPC mice or data for Fhip2a.

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MGI Allele Allele Type Produced
Fam160b1em1(IMPC)J Exon Deletion Mice

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