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
persistence of hyaloid vascular system Fhip2aem1(IMPC)J HOM Early adult 2.44×10-14
abnormal locomotor behavior Fhip2aem1(IMPC)J HOM Early adult 2.91×10-10
abnormal optic disk morphology Fhip2aem1(IMPC)J HOM Early adult 1.49×10-07
abnormal bone structure Fhip2aem1(IMPC)J HOM   Early adult 8.67×10-05
increased circulating alkaline phosphatase level Fhip2aem1(IMPC)J HOM Early adult 2.83×10-12
impaired glucose tolerance Fhip2aem1(IMPC)J HOM Early adult 6.90×10-06

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Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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.

Electroretinography 3

Fundus file

6 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

3 Images

X-ray

XRay Images Whole Body Lateral Orientation

3 Images

X-ray

XRay Images Whole Body Dorso Ventral

3 Images

X-ray

XRay Images Forepaw

3 Images

X-ray

XRay Images Skull Lateral Orientation

3 Images

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
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Optic Atrophy 2
Optic atrophy, Dysdiadochokinesis OMIM:311050
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy, Ataxia OMIM:136600
Retinitis Pigmentosa 42
Cystoid macular edema, Rod-cone dystrophy, Perifoveal ring of hyperautofluorescence, Peripapillar... OMIM:612943
Spastic Ataxia 7, Autosomal Dominant
Optic atrophy, Dysdiadochokinesis, Spastic ataxia OMIM:108650
Wolfram-Like Syndrome, Autosomal Dominant
Optic atrophy, Impaired glucose tolerance, Type II diabetes mellitus, Diabetes mellitus, Optic di... OMIM:614296
Ceroid Lipofuscinosis, Neuronal, 9
Optic atrophy, Rod-cone dystrophy, Loss of ambulation, Ataxia OMIM:609055
Retinitis Pigmentosa 36
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:610599
Auditory Neuropathy And Optic Atrophy
Optic atrophy, Rod-cone dystrophy OMIM:617717
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Attenuation of retinal blood vessels OMIM:165510
Spastic Paraplegia 43, Autosomal Recessive
Optic atrophy, Loss of ambulation, Gait disturbance OMIM:615043
Optic Atrophy 9
Optic atrophy, Optic disc pallor OMIM:616289
Leber Congenital Amaurosis 13
Attenuation of retinal blood vessels, Retinal dystrophy, Bone spicule pigmentation of the retina,... OMIM:612712
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy OMIM:165199
Olivopontocerebellar Atrophy-Deafness Syndrome
Optic atrophy, Ataxia, Chorioretinal coloboma ORPHA:2732
Leber-Like Hereditary Optic Neuropathy, Autosomal Recessive 2
Optic atrophy OMIM:620569
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Optic atrophy, Inability to walk OMIM:618572
Spastic Paraplegia 57, Autosomal Recessive
Optic atrophy, Loss of ambulation OMIM:615658
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Ataxia, Retinal dystrophy OMIM:614706
Ribose 5-Phosphate Isomerase Deficiency
Optic atrophy, Elevated circulating ribitol concentration, Increased level of D-threitol in plasm... OMIM:608611
Spastic Ataxia-Corneal Dystrophy Syndrome
Optic atrophy, Ataxia, Spastic ataxia, Gait disturbance ORPHA:2572
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Retinal thinning, Hyperglycemia, Ataxia, Optic disc pallor OMIM:618970
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Liberfarb Syndrome
Bone spicule pigmentation of the retina, Delayed epiphyseal ossification, Retinal degeneration, R... OMIM:618889
Retinitis Pigmentosa 71
Optic disc drusen, Attenuation of retinal blood vessels, Perifoveal ring of hyperautofluorescence... OMIM:616394
Spasticity, Childhood-Onset, With Hyperglycinemia
Optic atrophy, Hyperglycinemia, Spastic ataxia, Gait disturbance OMIM:616859
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy ORPHA:2253
Usher Syndrome, Type Iiib
Truncal ataxia, Attenuation of retinal blood vessels, Optic disc pallor, Bull's eye maculopathy OMIM:614504
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor OMIM:165300
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
Infantile-Onset Spinocerebellar Ataxia
Optic atrophy, Ataxia, Abnormality of the autonomic nervous system ORPHA:1186
Leber Congenital Amaurosis 19
Retinal degeneration, Attenuation of retinal blood vessels, Optic disc pallor OMIM:618513
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Difficulty walking, Peripheral axonal neuropathy, Decreased number of large periph... OMIM:617087
Wolfram-Like Syndrome
Optic atrophy, Progressive cerebellar ataxia, Glucose intolerance, Peripheral axonal neuropathy, ... ORPHA:411590
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Increased LDL cholesterol concentration, Impaired glucose tolerance, Osteop... OMIM:610947
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Ataxia ORPHA:2246
Peripheral Cone Dystrophy
Optic atrophy, Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic disc pallor OMIM:609021
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Retinitis Pigmentosa 30
Optic atrophy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of ret... OMIM:607921
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormality of peripheral nerve conduction, Inability to walk ORPHA:431329
Spastic Paraplegia 74, Autosomal Recessive
Optic atrophy, Peripheral axonal neuropathy OMIM:616451
Retinitis Pigmentosa 57
Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess... OMIM:613582
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Optic atrophy, Truncal ataxia OMIM:611726
Autosomal Recessive Spastic Paraplegia Type 45
Optic atrophy, Spastic gait ORPHA:320396
Retinitis Pigmentosa 33
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:610359
Wagner Vitreoretinopathy
Optic atrophy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitreoretinopathy... OMIM:143200
Spinocerebellar Ataxia, Autosomal Recessive 29
Inability to walk, Peripheral axonal neuropathy, Ataxia, Retinal pigment epithelial mottling, Opt... OMIM:619389
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Limb ataxia, Gait ataxia, Ataxia, Retinal degeneration OMIM:614322
Camos Syndrome
Optic atrophy, Ataxia ORPHA:83472
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy, Orbital craniosynostosis ORPHA:1538
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Ataxia, Retinopathy, Pigmentary retinopathy OMIM:610951
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy, Ataxia ORPHA:85297
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Retinal detach... ORPHA:179
Early-Onset X-Linked Optic Atrophy
Optic atrophy, Decreased nerve conduction velocity, Dysdiadochokinesis, Gait ataxia, Choreoatheto... ORPHA:98890
Retinitis Pigmentosa 81
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,... OMIM:617871
Nescav Syndrome
Optic atrophy, Peripheral axonal neuropathy, Ataxia, Inability to walk OMIM:614255
Optic Atrophy 12
Optic atrophy, Optic disc pallor OMIM:618977
Retinitis Pigmentosa 62
Bone spicule pigmentation of the retina, Bull's eye maculopathy, Attenuation of retinal blood ves... OMIM:614181
Striatonigral Degeneration, Infantile
Optic atrophy, Choreoathetosis OMIM:271930
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Optic atrophy, Craniosynostosis, Facial palsy, Increased bone mineral density ORPHA:178377
Merrf
Optic atrophy, Ataxia ORPHA:551
Cherubism
Optic atrophy, Bone cyst ORPHA:184
Developmental And Epileptic Encephalopathy 58
Optic atrophy, Inability to walk OMIM:617830
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Optic atrophy, Peripheral axonal neuropathy, Spastic ataxia ORPHA:496756
Retinitis Pigmentosa 95
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Perifoveal ring of... OMIM:620102
Retinitis Pigmentosa 63
Rod-cone dystrophy, Optic disc pallor OMIM:614494
Retinitis Pigmentosa 32
Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Optic disc pall... OMIM:609913
Sclerosteosis
Optic atrophy, Abnormal cortical bone morphology, Craniofacial hyperostosis, Increased bone miner... ORPHA:3152
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Optic atrophy, Onion bulb formation, Gait disturbance, Rod-cone dystrophy, Segmental peripheral d... OMIM:311070
Retinitis Pigmentosa 11
Bone spicule pigmentation of the retina, Macular degeneration, Perifoveal ring of hyperautofluore... OMIM:600138
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Optic atrophy, Ataxia, Retrobulbar optic neuritis, Gait disturbance ORPHA:3151
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Steppage gait, Decreased sensory nerve conduction velocity, Decreased number of pe... OMIM:609260
Retinitis Pigmentosa 50
Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Rod-cone dystrophy, Opt... OMIM:613194
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones, Optic atrop... OMIM:239100
Cone-Rod Dystrophy 17
Cone/cone-rod dystrophy, Optic disc pallor OMIM:615163
Null Syndrome
Optic atrophy, Decreased nerve conduction velocity, Difficulty walking, Inability to walk, Ataxia... ORPHA:280234
Night Blindness, Congenital Stationary, Type 1G
Congenital stationary night blindness, Rod-cone dystrophy, Optic disc pallor OMIM:616389
Leukoencephalopathy With Vanishing White Matter 2
Optic atrophy, Unsteady gait OMIM:620312
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Optic atrophy, Peripheral axonal neuropathy, Difficulty walking, Ataxia OMIM:619425
Craniodiaphyseal Dysplasia, Autosomal Dominant
Optic atrophy, Craniofacial hyperostosis, Diaphyseal sclerosis, Facial diplegia, Cortical scleros... OMIM:122860
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic atrophy, Optic disc pallor OMIM:182830
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Leber Hereditary Optic Neuropathy
Optic atrophy, Retinal telangiectasia, Ataxia, Retinal vascular tortuosity ORPHA:104
Optic Atrophy 15
Optic atrophy, Optic disc pallor OMIM:620583
Leukoencephalopathy With Vanishing White Matter 4
Optic atrophy, Unsteady gait OMIM:620314
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Optic atrophy, Osteoporosis ORPHA:2787
Optic Atrophy 6
Optic atrophy, Retinal degeneration OMIM:258500
Spastic Paraplegia 81, Autosomal Recessive
Optic atrophy, Inability to walk, Retinal vascular tortuosity OMIM:618768
Retinitis Pigmentosa 26
Attenuation of retinal blood vessels, Rod-cone dystrophy, Optic disc pallor OMIM:608380
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Retinal dystrophy, Remnants of the hyaloid vascular system, Chorioretinal c... ORPHA:231736
Spastic Ataxia 4, Autosomal Recessive
Optic atrophy, Limb ataxia, Spastic ataxia, Gait ataxia OMIM:613672
Cone-Rod Dystrophy 16
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... OMIM:614500
Retinitis Pigmentosa 38
Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy, Optic disc pallor OMIM:613862
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy ORPHA:2773
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor OMIM:606068
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Optic atrophy, Ataxia ORPHA:1171
Irvan Syndrome
Optic atrophy, Retinal exudate, Retinal detachment, Vitreous floaters, Tractional retinal detachm... ORPHA:209943
Leber Congenital Amaurosis 14
Retinal dystrophy, Rod-cone dystrophy, Optic disc pallor, Falls OMIM:613341
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Optic atrophy, Peripheral axonal neuropathy, Ataxia OMIM:617207
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Optic atrophy, Peripheral axonal neuropathy, Gait ataxia OMIM:620221
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Macular edema, Macular exudate, Reduced bone mineral density, Chorioretin... ORPHA:891
Microphthalmia, Isolated 5
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Optic disc drusen, C... OMIM:611040
Retinitis Pigmentosa 73
Bone spicule pigmentation of the retina, Geographic atrophy, Retinal atrophy, Macular crystals, E... OMIM:616544
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glo... OMIM:165550
Retinitis Pigmentosa 88
Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular edema, Attenuation... OMIM:618826
Spastic Paraplegia 2, X-Linked
Optic atrophy, Spastic gait, Loss of ambulation, Dysmetria OMIM:312920
Retinitis Pigmentosa 19
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:601718
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Ataxia, Optic disc pallor OMIM:616732
Glycosylphosphatidylinositol Biosynthesis Defect 15
Optic atrophy, Osteopenia, Inability to walk, Gait ataxia, Dysmetria OMIM:617810
3-Methylglutaconic Aciduria, Type Iii
Optic atrophy, Ataxia OMIM:258501
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Optic atrophy, Inability to walk, Optic disc pallor OMIM:617086
Mitochondrial Complex I Deficiency, Nuclear Type 19
Optic atrophy, Inability to walk, Athetosis, Gait disturbance, Loss of ambulation, Hypoglycemia OMIM:618241
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Optic atrophy, Spastic gait OMIM:619052
Craniodiaphyseal Dysplasia
Optic atrophy, Craniofacial hyperostosis ORPHA:1513
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Optic atrophy, Elevated circulating creatine kinase concentration OMIM:613151
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Macular atrophy, Optic disc pallor OMIM:604393
Retinitis Pigmentosa 78
Cystoid macular edema, Optic disc pallor OMIM:617433
Spinocerebellar Ataxia 7
Optic atrophy, Progressive cerebellar ataxia, Macular degeneration, Pigmentary retinopathy, Dysme... OMIM:164500
Retinitis Pigmentosa 79
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy, O... OMIM:617460
Spinocerebellar Ataxia, Autosomal Recessive 8
Optic atrophy, Limb ataxia, Peripheral axonal neuropathy, Abnormal autonomic nervous system physi... OMIM:610743
Hsd10 Mitochondrial Disease
Optic atrophy, Hypoglycemia, Choreoathetosis, Retinal degeneration, Elevated circulating tiglylgl... OMIM:300438
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Absent brainstem auditory responses, Abnormal retinal ... ORPHA:1215
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Papilledema, Retinal arteriolar constriction OMIM:124950
Spinocerebellar Ataxia, Autosomal Recessive 18
Truncal ataxia, Dysdiadochokinesis, Optic disc pallor, Gait ataxia, Ataxia, Dysmetria OMIM:616204
Usher Syndrome, Type 1M
Drusen, Optic disc pallor OMIM:618632
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Retinal dystrophy, Optic disc pallor OMIM:616079
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Retinal Dystrophy And Microvillus Inclusion Disease
Osteopenia, Optic disc pallor OMIM:619446
Proximal Myopathy With Extrapyramidal Signs
Optic atrophy, Difficulty walking, Peripheral axonal neuropathy, Ataxia, Mildly elevated creatine... ORPHA:401768
Optic Atrophy 14
Optic disc pallor OMIM:620550
Macular Dystrophy With Central Cone Involvement
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Optic disc pallor, Bull's eye maculo... OMIM:616170
Leber Congenital Amaurosis 9
Optic atrophy, Macular coloboma, Macular hypopigmentation, Bone spicule pigmentation of the retin... OMIM:608553
Central Retinal Vein Occlusion
Macular edema, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage, Macular cott... ORPHA:411527
Behr Syndrome
Optic atrophy, Truncal ataxia, Sensory axonal neuropathy, Gait disturbance, Ataxia, Unsteady gait... OMIM:210000
Retinitis Pigmentosa 1
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:180100
Spinocerebellar Ataxia With Epilepsy
Optic atrophy, Progressive cerebellar ataxia, Sensory axonal neuropathy, Dysdiadochokinesis, Hype... ORPHA:254881
Glaucoma 3, Primary Congenital, E
Increased cup-to-disc ratio OMIM:617272
X-Linked Charcot-Marie-Tooth Disease Type 5
Optic atrophy, Ataxia, Abnormal nerve conduction velocity, Gait disturbance ORPHA:99014
Sarcosinemia
Optic atrophy, Hypersarcosinemia, Ataxia ORPHA:3129
Multiple Mitochondrial Dysfunctions Syndrome 6
Optic atrophy, Ataxia, Inability to walk, Dysmetria OMIM:617954
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Optic atrophy, Progressive cerebellar ataxia, Progressive gait ataxia ORPHA:254343
Juvenile Paget Disease
Optic atrophy, Cranial hyperostosis, Hyperuricemia, Osteoporosis, Abnormality of retinal pigmenta... ORPHA:2801
Optic Atrophy 5
Optic atrophy, Optic disc pallor OMIM:610708
Autosomal Recessive Progressive External Ophthalmoplegia
Optic atrophy, Optic neuritis, Sensory axonal neuropathy, Shuffling gait, Facial palsy, Elevated ... ORPHA:254886
Leber Congenital Amaurosis 2
Optic disc pallor, Fundus atrophy, Attenuation of retinal blood vessels, Absent foveal reflex, Pi... OMIM:204100
Cone-Rod Dystrophy, X-Linked, 3
Retinal detachment, Abnormality of macular pigmentation, Cone/cone-rod dystrophy, Absent foveal r... OMIM:300476
Mitochondrial Complex I Deficiency, Nuclear Type 34
Optic atrophy, Optic disc pallor OMIM:618776
Microphthalmia/Coloboma 12
Remnants of the hyaloid vascular system, Optic nerve aplasia, Chorioretinal coloboma, Optic disc ... OMIM:120200
Osteopetrosis, Autosomal Recessive 9
Hyperkalemia, Osteopetrosis, Increased bone mineral density, Cortical sclerosis, Papilledema, Ele... OMIM:620366
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Difficulty walking, Progressive cerebellar ataxia, Broad-based gait, Dysdiadochokinesis, Optic di... ORPHA:363429
Leukodystrophy, Hypomyelinating, 16
Broad-based gait, Shuffling gait, Optic disc pallor, Gait ataxia, Choreoathetosis, Dysmetria OMIM:617964
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal dystrophy, Retinal detachment, Abnormality of retinal pigmentation, Chorioretinal dysplas... OMIM:251270
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Optic atrophy, Osteopenia, Difficulty walking, Osteoporosis, Gait ataxia, Dysmetria ORPHA:529665
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Optic atrophy, Increased serum pyruvate, Hyperalaninemia, Ataxia, Unsteady gait OMIM:245349
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Optic atrophy, Decreased nerve conduction velocity, Inability to walk, Sensory axonal neuropathy,... ORPHA:457205
Narp Syndrome
Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Ataxia, Progressive gait atax... ORPHA:644
Leber Optic Atrophy And Dystonia
Optic atrophy, Athetosis, Leber optic atrophy OMIM:500001
Infantile Cerebellar-Retinal Degeneration
Optic atrophy, Athetosis, Ataxia, Retinal dystrophy OMIM:614559
Mitochondrial Complex I Deficiency, Nuclear Type 27
Optic atrophy, Ataxia OMIM:618248
Retinitis Pigmentosa 12
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:600105
Developmental And Epileptic Encephalopathy 47
Limb ataxia, Inability to walk, Gait disturbance, Attenuation of retinal blood vessels, Ataxia, O... OMIM:617166
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Cystoid macular edema, Nummular pigmentation of the fund... OMIM:618613
Childhood-Onset Spasticity With Hyperglycinemia
Optic atrophy, Nonketotic hyperglycinemia, Loss of ability to walk in early childhood, Ataxia, Un... ORPHA:401866
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Optic atrophy, Progressive cerebellar ataxia, Dysdiadochokinesis, Gait ataxia, Dysmetria ORPHA:504476
Leber Optic Atrophy
Optic atrophy, Central retinal vessel vascular tortuosity, Optic neuropathy, Ataxia, Leber optic ... OMIM:535000
Joubert Syndrome 28
Ataxia, Optic disc pallor, Pigmentary retinopathy OMIM:617121
Peroxisome Biogenesis Disorder 8B
Optic atrophy, Tip-toe gait, Retinal dystrophy, Gait ataxia, Elevated circulating phytanic acid c... OMIM:614877
Craniotelencephalic Dysplasia
Optic atrophy, Craniosynostosis, Septo-optic dysplasia ORPHA:1528
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Optic atrophy, Ataxia, Dysmetria OMIM:618688
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Cone/cone-rod dystrophy, Ataxia, Retinal degeneration, Diabetes mellitus OMIM:249270
Mitochondrial Complex I Deficiency, Nuclear Type 28
Optic atrophy, Akinesia, Truncal ataxia, Hyperalaninemia, Optic neuropathy, Choreoathetosis, Opti... OMIM:618249
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Osteopetrosis, Increased bone mineral density, Facial palsy, Optic disc pallor OMIM:611490
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Retinal detachment, Chorioretinal coloboma, Iris coloboma ORPHA:1473
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Difficulty walking, Progressive cerebellar ataxia, Gait ataxia, Elevated circulati... ORPHA:95433
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Optic atrophy, Inability to walk, Hyperalaninemia, Hyperammonemia, Hypoglycemia OMIM:614739
Aniridia 2
Optic atrophy, Aniridia, Iris coloboma OMIM:617141
Retinitis Pigmentosa 10
Bone spicule pigmentation of the retina, Geographic atrophy, Bull's eye maculopathy, Attenuation ... OMIM:180105
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic atrophy, Optic disc pallor OMIM:612989
Intellectual Developmental Disorder And Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:618195
Spinocerebellar Ataxia 13
Optic atrophy, Limb ataxia, Progressive cerebellar ataxia, Gait ataxia, Limb dysmetria OMIM:605259
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Inability to walk, Sensory axonal neuropathy, Motor axonal neuropathy, Optic disc ... OMIM:609541
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic atrophy, Rickets, Bone spicule pigmentation of the retina, Glycosuria, Rod-cone dystrophy, ... OMIM:268315
Cone-Rod Dystrophy 3
Pigmentary retinopathy, Bull's eye maculopathy, Cone/cone-rod dystrophy, Attenuation of retinal b... OMIM:604116
Retinitis Pigmentosa 46
Attenuation of retinal blood vessels, Rod-cone dystrophy, Optic disc pallor, Pigmentary retinopathy OMIM:612572
Cone-Rod Dystrophy 20
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor OMIM:615973
Eales Disease
Retinal thinning, Peripheral retinal neovascularization, Vitritis, Cystoid macular edema, Vitreou... ORPHA:40923
Mody
Neonatal hypoglycemia, Abnormal circulating C-peptide concentration, Hypoinsulinemia, Retinopathy... ORPHA:552
Retinitis Pigmentosa 58
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:613617
Retinitis Pigmentosa 41
Bone spicule pigmentation of the retina, Macular degeneration, Optic disc pallor, Attenuation of ... OMIM:612095
Optic Atrophy 11
Optic atrophy, Decreased sensory nerve conduction velocity, Optic nerve hypoplasia, Athetosis, Fa... OMIM:617302
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Diabetes mellitus, Abnormal autonomic nervous system physiology OMIM:598500
Schindler Disease, Type I
Optic atrophy, Osteopenia OMIM:609241
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Decreased sensory nerve conduction velocity, Bone spicule pigmentation of the reti... OMIM:609033
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Difficulty walking, Peripheral axonal neuropathy, Decreased number of peripheral m... ORPHA:320406
Retinitis Pigmentosa 49
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613756
Hyperostosis Cranialis Interna
Optic atrophy, Calvarial hyperostosis, Facial palsy, Hyperostosis cranialis interna, Osteoscleros... OMIM:144755
Developmental And Epileptic Encephalopathy 93
Optic atrophy, Inability to walk, Gait disturbance, Iris coloboma OMIM:618012
Retinitis Pigmentosa 25
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of retinal blood vess... OMIM:602772
Spastic Paraplegia Type 2
Optic atrophy, Spastic gait, Ataxia ORPHA:99015
Mesangial sclerosis, diffuse renal, with ocular abnormalities
Optic atrophy, Retinal arteriolar constriction OMIM:249660
Triple A Syndrome
Optic atrophy, Motor axonal neuropathy, Ataxia, Iris coloboma ORPHA:869
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Ataxia, Cherry red spot of the macula, Optic disc pallor OMIM:615281
X-Linked Intellectual Disability, Najm Type
Optic atrophy, Optic nerve hypoplasia, Chorioretinal coloboma, Gait disturbance ORPHA:163937
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Vitreoretinopathy, Retinal vascular tortuosity, Abnormal optic disc morphology ORPHA:440727
Classic Pantothenate Kinase-Associated Neurodegeneration
Tip-toe gait, Inability to walk, Pigmentary retinopathy, Gait disturbance, Rod-cone dystrophy, Op... ORPHA:216866
Muscle-Eye-Brain Disease
Optic atrophy, Elevated circulating creatine kinase concentration, Gait disturbance ORPHA:588
Neuronal Intranuclear Inclusion Disease
Optic atrophy, Ataxia ORPHA:2289
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Osteopetrosis, Facial palsy OMIM:615085
Retinitis Pigmentosa 72
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Peripapillary atro... OMIM:616469
Friedreich Ataxia
Optic atrophy, Limb ataxia, Gait imbalance, Inability to walk, Falls, Sensory axonal neuropathy, ... ORPHA:95
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Optic atrophy, Decreased nerve conduction velocity, Ataxia, Rod-cone dystrophy, Dysmetria OMIM:612674
Friedreich Ataxia
Optic atrophy, Limb ataxia, Decreased sensory nerve conduction velocity, Gait ataxia, Decreased a... OMIM:229300
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Prolonged somatosensory evoked potentials OMIM:616648
Maternal Uniparental Disomy Of Chromosome 4
Optic atrophy, Spastic gait, Pigmentary retinopathy, Elevated circulating creatine kinase concent... ORPHA:96180
Retinitis Pigmentosa 56
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:613581
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Mitochondrial Complex I Deficiency, Nuclear Type 10
Optic atrophy, Ataxia, Dysmetria, Broad-based gait OMIM:618233
Retinitis Pigmentosa 43
Bone spicule pigmentation of the retina, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:613810
Opticocochleodentate Degeneration
Optic atrophy OMIM:258700
Jalili Syndrome
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... OMIM:217080
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Optic atrophy, Fasting hypoglycemia, Impaired gluconeogenesis, Low plasma citrulline, Hypoglycemia OMIM:261680
Severe Early-Childhood-Onset Retinal Dystrophy
Granular macular appearance, Macular coloboma, Bone spicule pigmentation of the retina, Retinal d... ORPHA:364055
Spinocerebellar Ataxia, Autosomal Recessive 28
Optic atrophy, Gait ataxia OMIM:618800
Juvenile Glaucoma
Temporal optic disc pallor, Retinal arterial occlusion, Abnormal optic nerve morphology, Optic ne... ORPHA:98977
Retinitis Pigmentosa 14
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor, Retinal arteriola... OMIM:600132
Vitamin B12-Unresponsive Methylmalonic Acidemia
Optic atrophy, Hyperammonemia, Choreoathetosis, Ataxia ORPHA:27
Osteopetrosis, Autosomal Recessive 2
Optic atrophy, Cranial hyperostosis, Osteopetrosis, Diaphyseal sclerosis, Decreased osteoclast co... OMIM:259710
Amaurosis-Hypertrichosis Syndrome
Optic atrophy, Cone/cone-rod dystrophy, Retinal dystrophy ORPHA:1021
L-2-Hydroxyglutaric Aciduria
Optic atrophy, Ataxia, L-2-hydroxyglutaric acidemia OMIM:236792
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Carpal osteolysis, Osteolysis involving bones of the lower limbs, Osteolysis involvin... ORPHA:371428
X-Linked Charcot-Marie-Tooth Disease Type 2
Steppage gait, Gait disturbance, Optic neuropathy, Decreased motor nerve conduction velocity, Opt... ORPHA:101076
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Optic atrophy, Steppage gait, Decreased motor nerve conduction velocity, Axonal degeneration/rege... OMIM:601152
Zika Virus Disease
Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic disc morphology, Absent foveal refle... ORPHA:448237
Wolfram Syndrome 2
Optic atrophy, Diabetes mellitus, Optic neuropathy OMIM:604928
Retinitis Pigmentosa 60
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:613983
Dysosteosclerosis
Optic atrophy, Craniofacial hyperostosis, Abnormal cranial nerve morphology, Increased bone miner... ORPHA:1782
Retinitis Pigmentosa
Optic atrophy, Bone spicule pigmentation of the retina, Hyperinsulinemia, Abnormality of retinal ... ORPHA:791
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic atrophy, Athetosis, Pigmentary retinopathy, Gait disturbance, Ataxia, Loss of ambulation, O... OMIM:617282
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Optic atrophy, Limb ataxia, Truncal ataxia, Gait disturbance, Gait ataxia, Ataxia, Unsteady gait OMIM:619259
Retinitis Pigmentosa And Erythrocytic Microcytosis
Bone spicule pigmentation of the retina, Retinal atrophy, Photoreceptor layer loss on macular OCT... OMIM:616959
Retinitis Pigmentosa 66
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor OMIM:615233
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Rod-cone dystrophy, Macular atrophy, Optic disc pallor OMIM:615434
Jalili Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1873
Osteopetrosis, Autosomal Recessive 1
Optic atrophy, Osteopetrosis, Calvarial osteosclerosis, Hypocalcemia, Increased bone mineral dens... OMIM:259700
Spinocerebellar Ataxia Type 13
Optic atrophy, Limb ataxia, Difficulty walking, Gait ataxia, Optic disc pallor ORPHA:98768
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Elevated circulating creatine kina... OMIM:614643
Neurodegeneration With Brain Iron Accumulation 4
Optic atrophy, Elevated circulating creatine kinase concentration, Gait disturbance, Loss of ambu... OMIM:614298
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Optic atrophy, Elevated circulating creatine kinase concentration, Gait disturbance, Gait ataxia,... OMIM:616878
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Optic atrophy, Ataxia, Type II diabetes mellitus OMIM:604121
Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Tip-toe gait, Osteopenia, Gait disturbance, Bull's eye maculopathy, Abetalipoprote... ORPHA:157850
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Retinal calcification, Hypocalcemia, Increased bone mineral density, ... OMIM:127000
Lethal Ataxia With Deafness And Optic Atrophy
Optic atrophy, Hypouricemia, Ataxia, Decreased motor nerve conduction velocity, Abnormality of so... ORPHA:1187
Persistent Hyperplastic Primary Vitreous
Remnants of the hyaloid vascular system, Retinal fold, Tractional retinal detachment, Hyaloid vas... ORPHA:91495
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Glaucoma, Primary Closed-Angle
Increased cup-to-disc ratio OMIM:618880
Isolated Complex I Deficiency
Increased serum pyruvate, Optic neuropathy, Ataxia, Hypoglycemia, Diabetes mellitus, Optic disc p... ORPHA:2609
Metachromatic Leukodystrophy
Optic atrophy, Decreased nerve conduction velocity, Gait disturbance, Ataxia, Peripheral demyelin... OMIM:250100
Joubert Syndrome 8
Ataxia, Pigmentary retinopathy, Optic disc pallor OMIM:612291
Cerebrotendinous Xanthomatosis
Difficulty walking, Delayed somatosensory central conduction time, Abnormal circulating cholester... OMIM:213700
Peroxisome Biogenesis Disorder 4B
Optic atrophy, Decreased nerve conduction velocity, Retinal dystrophy, Gait disturbance, Ataxia, ... OMIM:614863
Full Nf2-Related Schwannomatosis
Retinal hamartoma, Peripheral schwannoma, Facial palsy, Abnormal optic nerve morphology, Remnants... ORPHA:637
Atelis Syndrome 2
Vitreous hemorrhage, Hyperinsulinemia, Dysmetria, Remnants of the hyaloid vascular system OMIM:620185
Papilloma Of Choroid Plexus
Papilledema OMIM:260500
Peroxisome Biogenesis Disorder 1B
Optic atrophy, Hyperoxaluria, Rod-cone dystrophy, Epiphyseal stippling OMIM:601539
Pierson Syndrome
Posterior lenticonus, Retinal detachment, Hypoproteinemia, Remnants of the hyaloid vascular syste... OMIM:609049
Achalasia-Addisonianism-Alacrima Syndrome
Optic atrophy, Orthostatic hypotension, Abnormal autonomic nervous system physiology, Ataxia, Mot... OMIM:231550
Hyperoxaluria, Primary, Type I
Optic atrophy, Choroidal neovascularization, Increased bone mineral density, Hyperoxaluria, Optic... OMIM:259900
Fuchs Heterochromic Iridocyclitis
Vitreous floaters, Chorioretinal scar, Epiretinal membrane, Papilledema, Retinal perforation, Opt... ORPHA:263479
Osteopetrosis, Autosomal Recessive 7
Optic atrophy, Osteopetrosis, Hypocalcemic seizures, Optic nerve compression, Abnormal trabecular... OMIM:612301
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal fold, Retinal nonattachment, Remnants of the hyaloid vascular system, Iris coloboma OMIM:221900
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Congenital stationary night blindness, Insulin-resistant diabetes mellitus, Abnormal optic disc m... ORPHA:293967
Retinitis Pigmentosa 74
Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor OMIM:616562
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Optic atrophy, Osteopenia, Calcinosis, Inability to walk, Hypokalemia, Hypocalcemia, Hyponatremia OMIM:617913
Leber Congenital Amaurosis 15
Pigmentary retinopathy, Attenuation of retinal blood vessels, Peripapillary atrophy, Retinal dege... OMIM:613843
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic seizures, Calvarial osteosclerosis, Retinal calcification, Decreased skull ossificat... ORPHA:93325
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Stankiewicz-Isidor Syndrome
Abnormal optic disc morphology OMIM:617516
Temtamy Preaxial Brachydactyly Syndrome
Optic atrophy, Abnormal optic disc morphology ORPHA:363417
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Early ossification of capital femoral epiphyses, Subretinal deposits, Retinal dystrophy, Abnormal... ORPHA:397715
Norrie Disease
Optic atrophy, Abnormal chorioretinal morphology, Abnormal vitreous humor morphology, Retinal det... ORPHA:649
7Q11.23 Microduplication Syndrome
Craniosynostosis, Unsteady gait, Dysmetria, Abnormal optic disc morphology ORPHA:96121
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Coloboma, Facial palsy, Retinal coloboma, Abnormal optic disc morphology,... ORPHA:508498
Acromelic Frontonasal Dysostosis
Optic nerve hypoplasia, Remnants of the hyaloid vascular system OMIM:603671
Microphthalmia, Syndromic 2
Retinal detachment, Remnants of the hyaloid vascular system, Iris coloboma OMIM:300166
Holoprosencephaly 2
Cyclopia, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Iris coloboma OMIM:157170
Neuroocular Syndrome
Lens coloboma, Hypoplasia of the fovea, Remnants of the hyaloid vascular system, Iris coloboma OMIM:619539

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
Fhip2aem1(IMPC)J Exon Deletion Mice

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