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Gene: Fhip2a MGI:2147545

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal optic disk morphology Fhip2aem1(IMPC)J HOM Early adult 1.17×10-06
abnormal bone structure Fhip2aem1(IMPC)J HOM   Early adult 8.67×10-05
persistence of hyaloid vascular system Fhip2aem1(IMPC)J HOM Early adult 7.98×10-14
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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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

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X-ray

XRay Images Skull Lateral Orientation

3 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

3 Images

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Electroretinography 3

Fundus file

6 Images

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X-ray

XRay Images Whole Body Lateral Orientation

3 Images

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X-ray

XRay Images Whole Body Dorso Ventral

3 Images

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X-ray

XRay Images Forepaw

3 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

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

8 Images

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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
Abnormal oral glucose tolerance, Optic atrophy OMIM:311100
Leber Hereditary Optic Neuropathy, Modifier Of
Leber optic atrophy, Optic atrophy OMIM:308905
Retinitis Pigmentosa 42
Cystoid macular edema, Rod-cone dystrophy, Peripapillary atrophy, Perifoveal ring of hyperautoflu... OMIM:612943
Auditory Neuropathy And Optic Atrophy
Rod-cone dystrophy, Optic atrophy OMIM:617717
Retinitis Pigmentosa 36
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:610599
Wolfram-Like Syndrome, Autosomal Dominant
Optic atrophy, Impaired glucose tolerance, Type II diabetes mellitus, Diabetes mellitus, Optic di... OMIM:614296
Leber Congenital Amaurosis 13
Retinal dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ret... OMIM:612712
Optic Atrophy 9
Optic disc pallor, Optic atrophy OMIM:616289
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 13 With Retinal And Foveal Abnormalities
Attenuation of retinal blood vessels, Optic atrophy OMIM:165510
Optic Atrophy 5
Optic atrophy OMIM:610708
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Liberfarb Syndrome
Retinal degeneration, Retinal pigment epithelial mottling, Bone spicule pigmentation of the retin... OMIM:618889
Retinitis Pigmentosa 71
Rod-cone dystrophy, Optic disc drusen, Attenuation of retinal blood vessels, Perifoveal ring of h... OMIM:616394
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic disc pallor, Peripheral axonal neuropathy, Optic atrophy OMIM:617087
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy ORPHA:2253
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
Spastic Ataxia 7, Autosomal Dominant
Optic atrophy OMIM:108650
Leber Congenital Amaurosis 19
Retinal degeneration, Optic disc pallor, Attenuation of retinal blood vessels OMIM:618513
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Optic atrophy OMIM:165300
Peripheral Cone Dystrophy
Optic disc pallor, Peripheral retinal degeneration, Optic atrophy, Cone/cone-rod dystrophy OMIM:609021
Retinitis Pigmentosa 30
Rod-cone dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Attenuation of retina... OMIM:607921
Coronary Artery Disease, Autosomal Dominant 2
Impaired glucose tolerance, Type II diabetes mellitus, Glucose intolerance, Increased LDL cholest... OMIM:610947
Olivopontocerebellar Atrophy-Deafness Syndrome
Chorioretinal coloboma, Optic atrophy ORPHA:2732
Retinitis Pigmentosa 57
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:613582
Retinitis Pigmentosa 33
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... OMIM:610359
Spastic Paraplegia 74, Autosomal Recessive
Peripheral axonal neuropathy, Optic atrophy OMIM:616451
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Optic atrophy, Vitreoretinopathy... OMIM:143200
Van Buchem Disease
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis, Optic atrop... OMIM:239100
Retinitis Pigmentosa 81
Retinal pigment epithelial atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, A... OMIM:617871
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy, Orbital craniosynostosis ORPHA:1538
Retinitis Pigmentosa 63
Rod-cone dystrophy, Optic disc pallor OMIM:614494
Ceroid Lipofuscinosis, Neuronal, 11
Retinal dystrophy, Optic atrophy OMIM:614706
Optic Atrophy 12
Optic disc pallor, Optic atrophy OMIM:618977
Retinitis Pigmentosa 62
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:614181
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Hypoplasia of the fovea, Optic atrophy OMIM:620086
Retinitis Pigmentosa 95
Perifoveal ring of hyperautofluorescence, Optic disc pallor, Bone spicule pigmentation of the ret... OMIM:620102
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis, Optic atrophy, Facial palsy ORPHA:178377
Birdshot Chorioretinopathy
Retinal thinning, Abnormal choroid morphology, Vitritis, Vitreous floaters, Choroidal neovascular... ORPHA:179
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Diabetes mellitus, Peripheral axonal neuropathy, Optic atrophy ORPHA:320360
Night Blindness, Congenital Stationary, Type 1G
Rod-cone dystrophy, Optic disc pallor, Congenital stationary night blindness OMIM:616389
Cone-Rod Dystrophy 17
Optic disc pallor, Cone/cone-rod dystrophy OMIM:615163
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Sclerosteosis
Optic atrophy, Increased bone mineral density, Craniofacial hyperostosis, Abnormal cortical bone ... ORPHA:3152
Retinitis Pigmentosa 32
Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... OMIM:609913
Retinitis Pigmentosa 11
Rod-cone dystrophy, Macular edema, Macular degeneration, Macular atrophy, Bone spicule pigmentati... OMIM:600138
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic disc pallor, Optic atrophy OMIM:182830
Retinitis Pigmentosa 70
Rod-cone dystrophy, Retinal degeneration, Macular degeneration, Attenuation of retinal blood vess... OMIM:615922
Retinitis Pigmentosa 50
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Opt... OMIM:613194
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Retinal dystrophy, Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma, ... ORPHA:231736
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Osteoporosis, Optic atrophy ORPHA:2787
Craniodiaphyseal Dysplasia, Autosomal Dominant
Optic atrophy, Craniofacial hyperostosis, Facial diplegia, Diaphyseal sclerosis, Craniofacial ost... OMIM:122860
Cherubism
Optic atrophy, Bone cyst ORPHA:184
Retinitis Pigmentosa 38
Rod-cone dystrophy, Peripheral retinal atrophy, Optic disc pallor, Macular atrophy OMIM:613862
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy ORPHA:2773
Retinitis Pigmentosa 26
Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels OMIM:608380
Retinitis Pigmentosa 28
Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina OMIM:606068
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the re... OMIM:614500
Optic Atrophy 6
Optic atrophy OMIM:258500
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia, Optic disc pallor, Retinal thinning OMIM:618970
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Morning glory anomaly, Optic nerve aplasia, Optic nerve ... OMIM:165550
Irvan Syndrome
Tractional retinal detachment, Macular edema, Optic atrophy, Retinal exudate, Vitreous floaters, ... ORPHA:209943
Retinitis Pigmentosa 88
Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... OMIM:618826
Infantile-Onset Spinocerebellar Ataxia
Abnormality of the autonomic nervous system, Optic atrophy ORPHA:1186
Familial Exudative Vitreoretinopathy
Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret... ORPHA:891
Microphthalmia, Isolated 5
Retinal pigment epithelial atrophy, Optic disc drusen, Foveoschisis, Bone spicule pigmentation of... OMIM:611040
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Retinitis Pigmentosa 73
Rod-cone dystrophy, Peripapillary atrophy, Macular crystals, Retinal atrophy, Bone spicule pigmen... OMIM:616544
Autosomal Recessive Spastic Paraplegia Type 57
Abnormality of peripheral nerve conduction, Optic atrophy ORPHA:431329
Retinitis Pigmentosa 19
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... OMIM:601718
Retinitis Pigmentosa 78
Cystoid macular edema, Optic disc pallor OMIM:617433
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Optic atrophy ORPHA:1513
Neurodegeneration With Brain Iron Accumulation
Retinopathy, Optic atrophy ORPHA:385
Leber Congenital Amaurosis 4
Attenuation of retinal blood vessels, Optic disc pallor, Macular atrophy, Cone/cone-rod dystrophy OMIM:604393
Retinitis Pigmentosa 79
Optic disc pallor, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... OMIM:617460
Usher Syndrome, Type 1M
Optic disc pallor, Drusen 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
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Retinal arteriolar constriction, Papilledema OMIM:124950
Retinal Dystrophy And Microvillus Inclusion Disease
Optic disc pallor, Osteopenia OMIM:619446
Wolfram-Like Syndrome
Diabetes mellitus, Peripheral axonal neuropathy, Glucose intolerance, Optic atrophy ORPHA:411590
Macular Dystrophy With Central Cone Involvement
Optic disc pallor, Bull's eye maculopathy, Macular dystrophy, Perifoveal ring of hyperautofluores... OMIM:616170
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Optic atrophy, Elevated circulating creatine kinase concentration OMIM:613151
Glaucoma 3, Primary Congenital, E
Increased cup-to-disc ratio OMIM:617272
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Onion bulb formation, Rod-cone dystrophy, Optic atrophy, Segmental peripheral demyelination/remye... OMIM:311070
Striatonigral Degeneration, Infantile
Optic atrophy OMIM:271930
Central Retinal Vein Occlusion
Macular edema, Retinal vascular tortuosity, Macular degeneration, Epiretinal membrane, Retinal ne... ORPHA:411527
Usher Syndrome, Type Iiib
Optic disc pallor OMIM:614504
Leber Congenital Amaurosis 9
Optic atrophy, Retinal dots, Retinal pigment epithelial mottling, Macular atrophy, Bone spicule p... OMIM:608553
Retinitis Pigmentosa 1
Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of re... OMIM:180100
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy ORPHA:85297
Juvenile Paget Disease
Hyperuricemia, Optic atrophy, Coarse metaphyseal trabecularization, Abnormality of retinal pigmen... ORPHA:2801
Coloboma, Ocular, Autosomal Dominant
Morning glory anomaly, Optic nerve aplasia, Remnants of the hyaloid vascular system, Chorioretina... OMIM:120200
Leber Congenital Amaurosis 2
Attenuation of retinal blood vessels, Fundus atrophy, Optic disc pallor, Pigmentary retinopathy, ... OMIM:204100
Mitochondrial Complex I Deficiency, Nuclear Type 34
Optic disc pallor, Optic atrophy OMIM:618776
Cone-Rod Dystrophy, X-Linked, 3
Cone/cone-rod dystrophy, Retinal detachment, Absent foveal reflex, Optic disc pallor, Abnormality... OMIM:300476
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal fold, Retinal dystrophy, Abnormality of retinal pigmentation, Chorioretinal dysplasia, Re... OMIM:251270
Retinitis Pigmentosa 86
Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... OMIM:618613
Early-Onset X-Linked Optic Atrophy
Optic disc pallor, Optic atrophy, Decreased nerve conduction velocity ORPHA:98890
Retinitis Pigmentosa 12
Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of re... OMIM:600105
Leber Congenital Amaurosis 14
Rod-cone dystrophy, Retinal dystrophy, Optic disc pallor OMIM:613341
Isolated Optic Nerve Hypoplasia/Aplasia
Pseudopapilledema, Optic disc hypoplasia, Optic nerve hypoplasia, Chorioretinal coloboma, Periphe... ORPHA:137902
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Abnormal retinal nerve fiber layer morphology, Optic atrophy, Motor a... ORPHA:1215
Proximal Myopathy With Extrapyramidal Signs
Insulin-resistant diabetes mellitus, Peripheral axonal neuropathy, Optic atrophy, Mildly elevated... ORPHA:401768
Aniridia 2
Iris coloboma, Aniridia, Optic atrophy OMIM:617141
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Optic disc pallor, Increased bone mineral density, Osteopetrosis, Facial palsy OMIM:611490
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Optic atrophy OMIM:619052
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation... OMIM:618195
Hsd10 Mitochondrial Disease
Retinal degeneration, Hypoglycemia, Elevated circulating tiglylglycine concentration, Optic atrophy OMIM:300438
Retinitis Pigmentosa
Hyperinsulinemia, Optic atrophy, Type II diabetes mellitus, Abnormality of retinal pigmentation, ... ORPHA:791
Retinitis Pigmentosa 10
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:180105
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Iris coloboma, Chorioretinal coloboma, Optic atrophy ORPHA:1473
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Retinitis Pigmentosa 46
Rod-cone dystrophy, Optic disc pallor, Pigmentary retinopathy, Attenuation of retinal blood vessels OMIM:612572
Cone-Rod Dystrophy 3
Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Optic disc pallor, Bull's eye macu... OMIM:604116
Schindler Disease, Type I
Osteopenia, Optic atrophy OMIM:609241
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic disc pallor, Optic atrophy OMIM:612989
Retinitis Pigmentosa 58
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:613617
Cone-Rod Dystrophy 20
Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy OMIM:615973
Retinitis Pigmentosa 49
Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of re... OMIM:613756
Retinitis Pigmentosa 41
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:612095
Wolfram Syndrome, Mitochondrial Form
Diabetes mellitus, Abnormal autonomic nervous system physiology, Optic atrophy OMIM:598500
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Retrobulbar optic neuritis, Optic atrophy ORPHA:3151
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rod-cone dystrophy, Optic atrophy, Glycosuria, Bone spicule pigmentation of the retina, Rickets, ... OMIM:268315
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Retinal arteriolar constriction, Optic atrophy OMIM:249660
Eales Disease
Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Vitreous haze, Vitritis, Retin... ORPHA:40923
Hyperostosis Cranialis Interna
Hyperostosis cranialis interna, Optic atrophy, Osteosclerosis of the base of the skull, Calvarial... OMIM:144755
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy ORPHA:440727
Null Syndrome
Abnormality of peripheral nerve conduction, Peripheral demyelination, Optic atrophy, Decreased ne... ORPHA:280234
Retinitis Pigmentosa 25
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:602772
Mody
Transient neonatal diabetes mellitus, Retinopathy, Diabetic ketoacidosis, Glycosuria, Neonatal hy... ORPHA:552
Optic Atrophy 8
Abnormal auditory evoked potentials, Prolonged somatosensory evoked potentials, Optic atrophy OMIM:616648
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis, Optic atrophy, Facial palsy OMIM:615085
Retinitis Pigmentosa 72
Rod-cone dystrophy, Peripapillary atrophy, Bone spicule pigmentation of the retina, Attenuation o... OMIM:616469
Craniotelencephalic Dysplasia
Craniosynostosis, Optic atrophy, Septo-optic dysplasia ORPHA:1528
Wildervanck Syndrome
Pseudopapilledema OMIM:314600
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Retinal dystrophy, Optic atrophy ORPHA:49827
Mitochondrial Complex I Deficiency, Nuclear Type 36
Hyperalaninemia, Optic disc pallor, Hyperprolinemia OMIM:619170
Retinitis Pigmentosa 56
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... OMIM:613581
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Impaired gluconeogenesis, Optic atrophy, Hypoglycemia, Fasting hypoglycemia, Low plasma citrulline OMIM:261680
Retinitis Pigmentosa 43
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:613810
Thiamine-Responsive Megaloblastic Anemia Syndrome
Retinal degeneration, Cone/cone-rod dystrophy, Diabetes mellitus, Optic atrophy OMIM:249270
Leber Congenital Amaurosis
Abnormal optic disc morphology, Abnormality of retinal pigmentation ORPHA:65
Jalili Syndrome
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular atrophy, Bone spicule pigme... OMIM:217080
Opticocochleodentate Degeneration
Optic atrophy OMIM:258700
Retinitis Pigmentosa 14
Rod-cone dystrophy, Retinal arteriolar constriction, Optic disc pallor, Bone spicule pigmentation... OMIM:600132
Amaurosis-Hypertrichosis Syndrome
Retinal dystrophy, Cone/cone-rod dystrophy, Optic atrophy ORPHA:1021
Osteopetrosis, Autosomal Recessive 2
Cranial nerve compression, Optic atrophy, Decreased osteoclast count, Diaphyseal sclerosis, Facia... OMIM:259710
Juvenile Glaucoma
Temporal optic disc pallor, Retinal arterial occlusion, Optic neuropathy, Abnormal optic nerve mo... ORPHA:98977
Retinitis Pigmentosa 60
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... OMIM:613983
Leber Optic Atrophy
Optic neuropathy, Central retinal vessel vascular tortuosity, Leber optic atrophy, Optic atrophy OMIM:535000
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Carpal osteolysis, Type I diabetes mellitus, Osteolysis involving bones of the upper limbs, Osteo... ORPHA:371428
Dysosteosclerosis
Optic atrophy, Increased bone mineral density, Coarse metaphyseal trabecularization, Craniofacial... ORPHA:1782
Zika Virus Disease
Retinal pigment epithelial mottling, Abnormal optic disc morphology, Macular atrophy, Optic disc ... ORPHA:448237
Retinitis Pigmentosa 66
Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina OMIM:615233
Mitochondrial Complex I Deficiency, Nuclear Type 27
Optic atrophy OMIM:618248
Jalili Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1873
Wildervanck Syndrome
Pseudopapilledema, Facial palsy ORPHA:3456
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Sensory axonal neuropathy, Optic disc pallor, Optic atrophy, Motor axonal neuropathy OMIM:609541
Osteopetrosis, Autosomal Recessive 1
Calvarial osteosclerosis, Optic atrophy, Increased bone mineral density, Facial paralysis, Hypoca... OMIM:259700
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... ORPHA:320406
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal pigment epithelial atrophy, Optic disc drusen, Abnormal macular morphology, Retinal degen... ORPHA:364055
Wolfram Syndrome 2
Optic neuropathy, Diabetes mellitus, Optic atrophy OMIM:604928
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Rod-cone dystrophy, Optic disc pallor, Macular atrophy OMIM:615434
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Elevated circulating creatine kinase concentration, Optic nerve hypoplasia, Retinal dysplasia, Re... OMIM:614643
Glaucoma, Primary Closed-Angle
Increased cup-to-disc ratio OMIM:618880
Retinitis Pigmentosa And Erythrocytic Microcytosis
Retinal pigment epithelial atrophy, Retinal atrophy, Decreased serum iron, Epiretinal membrane, P... OMIM:616959
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Mitochondrial Complex I Deficiency, Nuclear Type 28
Hyperalaninemia, Optic neuropathy, Optic disc pallor, Optic atrophy OMIM:618249
Maternal Uniparental Disomy Of Chromosome 4
Rod-cone dystrophy, Decreased LDL cholesterol concentration, Optic atrophy, Type I diabetes melli... ORPHA:96180
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Retinal calcification, Transient hypophosphatemia, Increased bone mineral dens... OMIM:127000
Persistent Hyperplastic Primary Vitreous
Retinal fold, Tractional retinal detachment, Macular hypoplasia, Hyaloid vascular remnant and ret... ORPHA:91495
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Mildly elevated creatine kinase, Optic atrophy, Elevated circulating alpha-fetoprotein concentration ORPHA:95433
Papilloma Of Choroid Plexus
Papilledema OMIM:260500
Hyperoxaluria, Primary, Type I
Retinopathy, Optic atrophy, Increased bone mineral density, Choroidal neovascularization, Optic n... OMIM:259900
Pierson Syndrome
Retinal hemorrhage, Macular hypoplasia, Retinal vascular tortuosity, Posterior lenticonus, Hypopi... OMIM:609049
Retinitis Pigmentosa 74
Rod-cone dystrophy, Optic disc pallor, Pigmentary retinopathy OMIM:616562
Peroxisome Biogenesis Disorder 1B
Rod-cone dystrophy, Epiphyseal stippling, Optic atrophy, Hyperoxaluria OMIM:601539
Osteopetrosis, Autosomal Recessive 7
Optic nerve compression, Optic atrophy, Abnormal trabecular bone morphology, Hypocalcemic seizure... OMIM:612301
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Retinal dysplasia, Pigmentary retinopathy, Optic atrophy, Elevated circulating creatine kinase co... OMIM:613154
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal nonattachment, Iris coloboma, Retinal fold, Remnants of the hyaloid vascular system OMIM:221900
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Type II diabetes mellitus, Optic atrophy OMIM:604121
Leber Congenital Amaurosis 15
Peripapillary atrophy, Retinal degeneration, Dull foveal reflex, Attenuation of retinal blood ves... OMIM:613843
Full Nf2-Related Schwannomatosis
Bilateral vestibular schwannoma, Retinal hamartoma, Epiretinal membrane, Remnants of the hyaloid ... ORPHA:637
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Abnormal optic disc morphology, Congenital stationary night blindness, Insulin-resistant diabetes... ORPHA:293967
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hyperphosphatemia, Calvarial osteosclerosis, Retinal calcification, Cortical... 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
Norrie Disease
Retinal detachment, Retinal dysplasia, Retinal fold, Optic atrophy OMIM:310600
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Temtamy Preaxial Brachydactyly Syndrome
Abnormal optic disc morphology, Optic atrophy ORPHA:363417
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Retinal dystrophy, Abnormal optic disc morphology, Subretinal deposits, Early ossification of cap... ORPHA:397715
Norrie Disease
Optic atrophy, Abnormal chorioretinal morphology, Diabetes mellitus, Remnants of the hyaloid vasc... ORPHA:649
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Coloboma, Facial palsy, Abnormal optic disc morphology, Optic nerve hypoplasia, Iris coloboma, Re... ORPHA:508498
7Q11.23 Microduplication Syndrome
Abnormal optic disc morphology, Craniosynostosis ORPHA:96121
Holoprosencephaly 2
Iris coloboma, Cyclopia, Chorioretinal coloboma, Remnants of the hyaloid vascular system OMIM:157170
Microphthalmia, Syndromic 2
Retinal detachment, Iris coloboma, Remnants of the hyaloid vascular system OMIM:300166
Neuroocular Syndrome
Remnants of the hyaloid vascular system, Iris coloboma, Hypoplasia of the fovea, Lens 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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