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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
impaired glucose tolerance Fhip2aem1(IMPC)J HOM Early adult 6.90×10-06
persistence of hyaloid vascular system Fhip2aem1(IMPC)J HOM Early adult 2.11×10-13
abnormal optic disk morphology Fhip2aem1(IMPC)J HOM Early adult 9.61×10-07
increased circulating alkaline phosphatase level Fhip2aem1(IMPC)J HOM Early adult 2.83×10-12
abnormal bone structure Fhip2aem1(IMPC)J HOM   Early adult 8.67×10-05

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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.

Electroretinography 3

Fundus file

6 Images

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X-ray

XRay Images Whole Body Dorso Ventral

3 Images

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X-ray

XRay Images Skull Lateral Orientation

3 Images

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X-ray

XRay Images Forepaw

3 Images

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X-ray

XRay Images Whole Body Lateral Orientation

3 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

3 Images

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Electrocardiogram (ECG)

Waveform Image

16 Images

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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
Optic atrophy, Leber optic atrophy OMIM:308905
Retinitis Pigmentosa 42
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Peripapillary atrophy, Cystoid macu... OMIM:612943
Wolfram-Like Syndrome, Autosomal Dominant
Optic disc pallor, Diabetes mellitus, Impaired glucose tolerance, Optic atrophy, Type II diabetes... OMIM:614296
Auditory Neuropathy And Optic Atrophy
Rod-cone dystrophy, Optic atrophy OMIM:617717
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Leber Congenital Amaurosis 13
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... OMIM:612712
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
Optic atrophy, Attenuation of retinal blood vessels OMIM:165510
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... OMIM:618889
Retinitis Pigmentosa 71
Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph... OMIM:616394
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
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy
Optic disc pallor, Optic atrophy OMIM:618511
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Optic atrophy OMIM:165300
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration OMIM:609021
Retinitis Pigmentosa 30
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... OMIM:607921
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Impaired glucose tolerance, Osteoporosis, Increased LDL cholesterol concent... OMIM:610947
Olivopontocerebellar Atrophy-Deafness Syndrome
Optic atrophy, Chorioretinal coloboma ORPHA:2732
Retinitis Pigmentosa 57
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... OMIM:613582
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Spastic Paraplegia 74, Autosomal Recessive
Peripheral axonal neuropathy, Optic atrophy OMIM:616451
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... OMIM:143200
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones, Optic atrop... OMIM:239100
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Retinitis Pigmentosa 63
Optic disc pallor, Rod-cone dystrophy OMIM:614494
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy, Orbital craniosynostosis ORPHA:1538
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Hyperglycemia, Retinal thinning OMIM:618970
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Retinal dystrophy OMIM:614706
Optic Atrophy 12
Optic disc pallor, Optic atrophy OMIM:618977
Retinitis Pigmentosa 62
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... OMIM:614181
Retinitis Pigmentosa 95
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... OMIM:620102
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Hypoplasia of the fovea, Optic atrophy OMIM:620086
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Optic atrophy, Facial palsy, Craniosynostosis ORPHA:178377
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... ORPHA:179
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Peripheral axonal neuropathy, Diabetes mellitus, Optic atrophy ORPHA:320360
Night Blindness, Congenital Stationary, Type 1G
Congenital stationary night blindness, Optic disc pallor, Rod-cone dystrophy OMIM:616389
Cone-Rod Dystrophy 17
Cone/cone-rod dystrophy, Optic disc pallor OMIM:615163
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic disc pallor, Optic atrophy OMIM:182830
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Facial palsy, Optic atrophy, Abnormal ... ORPHA:3152
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Wolfram-Like Syndrome
Glucose intolerance, Peripheral axonal neuropathy, Diabetes mellitus, Optic atrophy ORPHA:411590
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Decreased number of large peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axona... OMIM:617087
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... OMIM:613194
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Retinal dystrophy, Posterior lenticonus, Chorioretinal c... ORPHA:231736
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Optic atrophy, Osteoporosis ORPHA:2787
Craniodiaphyseal Dysplasia, Autosomal Dominant
Papilledema, Craniofacial hyperostosis, Cortical sclerosis, Craniofacial osteosclerosis, Optic at... OMIM:122860
Cherubism
Bone cyst, Optic atrophy ORPHA:184
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy OMIM:613862
Usher Syndrome, Type Iiib
Optic disc pallor, Bull's eye maculopathy, Attenuation of retinal blood vessels OMIM:614504
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
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy ORPHA:2773
Optic Atrophy 6
Optic atrophy OMIM:258500
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... OMIM:614500
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... OMIM:165550
Irvan Syndrome
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... ORPHA:209943
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Infantile-Onset Spinocerebellar Ataxia
Abnormality of the autonomic nervous system, Optic atrophy ORPHA:1186
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... OMIM:611040
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... OMIM:616544
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Pigmentary retinopathy, Optic atrophy OMIM:610951
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:431329
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:601718
Retinitis Pigmentosa 78
Optic disc pallor, Cystoid macular edema OMIM:617433
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Optic atrophy ORPHA:1513
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... OMIM:617460
Usher Syndrome, Type 1M
Drusen, Optic disc pallor OMIM:618632
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Papilledema, Retinal arteriolar constriction OMIM:124950
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels OMIM:604393
Retinal Dystrophy And Microvillus Inclusion Disease
Osteopenia, Optic disc pallor OMIM:619446
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Optic disc pallor, Retinal dystrophy OMIM:616079
Spastic Paraplegia 82, Autosomal Recessive
Optic atrophy OMIM:618770
Optic Atrophy 5
Optic disc pallor, Optic atrophy OMIM:610708
Macular Dystrophy With Central Cone Involvement
Macular dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculo... 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
Rod-cone dystrophy, Optic atrophy, Onion bulb formation, Segmental peripheral demyelination/remye... OMIM:311070
Striatonigral Degeneration, Infantile
Optic atrophy OMIM:271930
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Leber Congenital Amaurosis 9
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... OMIM:608553
Retinitis Pigmentosa 1
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:180100
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy ORPHA:85297
Juvenile Paget Disease
Abnormality of retinal pigmentation, Cranial hyperostosis, Optic atrophy, Osteoporosis, Hyperuric... ORPHA:2801
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... OMIM:120200
Osteopetrosis, Autosomal Recessive 9
Papilledema, Increased bone mineral density, Cortical sclerosis, Elevated circulating creatinine ... OMIM:620366
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, Optic disc pallor, Absent foveal reflex, Abnormality... OMIM:300476
Leber Congenital Amaurosis 2
Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of r... OMIM:204100
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... OMIM:251270
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Retinitis Pigmentosa 12
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:600105
Early-Onset X-Linked Optic Atrophy
Decreased nerve conduction velocity, Optic disc pallor, Optic atrophy ORPHA:98890
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Peripheral axonal neuropathy, Optic atrophy OMIM:620221
Leber Congenital Amaurosis 14
Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy OMIM:613341
Proximal Myopathy With Extrapyramidal Signs
Insulin-resistant diabetes mellitus, Peripheral axonal neuropathy, Optic atrophy, Mildly elevated... ORPHA:401768
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Diabetes mellitus, Optic atrophy, Abnormal retinal nerve fib... ORPHA:1215
Aniridia 2
Aniridia, Optic atrophy, Iris coloboma OMIM:617141
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Optic atrophy, Craniosynostosis ORPHA:1528
Hsd10 Mitochondrial Disease
Elevated circulating tiglylglycine concentration, Optic atrophy, Retinal degeneration, Hypoglycemia OMIM:300438
Osteopetrosis, Autosomal Recessive 4
Optic disc pallor, Increased bone mineral density, Facial palsy, Optic atrophy, Osteopetrosis OMIM:611490
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... OMIM:618195
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Optic atrophy, Iris coloboma, Chorioretinal coloboma ORPHA:1473
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Hyperinsulinemia, Opti... ORPHA:791
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic disc pallor, Optic atrophy OMIM:612989
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Bone spicule pigmentation of the retina, Optic atrophy, Rickets, Glycosuria, R... OMIM:268315
Retinitis Pigmentosa 46
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels OMIM:612572
Cone-Rod Dystrophy 3
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... OMIM:604116
Schindler Disease, Type I
Osteopenia, Optic atrophy OMIM:609241
Cone-Rod Dystrophy 20
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina OMIM:615973
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:613617
Retinitis Pigmentosa 49
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613756
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... OMIM:612095
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Retrobulbar optic neuritis, Optic atrophy ORPHA:3151
Wolfram Syndrome, Mitochondrial Form
Diabetes mellitus, Optic atrophy, Abnormal autonomic nervous system physiology OMIM:598500
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Retinal arteriolar constriction, Optic atrophy OMIM:249660
Mody
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... ORPHA:552
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy ORPHA:440727
Hyperostosis Cranialis Interna
Facial palsy, Optic atrophy, Osteosclerosis of the base of the skull, Calvarial hyperostosis, Hyp... OMIM:144755
Optic Atrophy 8
Optic atrophy, Prolonged somatosensory evoked potentials, Abnormal auditory evoked potentials OMIM:616648
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr... OMIM:602772
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis, Optic atrophy, Facial palsy OMIM:615085
Null Syndrome
Decreased nerve conduction velocity, Optic atrophy, Peripheral demyelination, Abnormality of peri... ORPHA:280234
Retinitis Pigmentosa 72
Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr... OMIM:616469
Wildervanck Syndrome
Pseudopapilledema OMIM:314600
Mitochondrial Complex I Deficiency, Nuclear Type 36
Hyperalaninemia, Optic disc pallor, Hyperprolinemia OMIM:619170
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Optic atrophy, Retinal dystrophy ORPHA:49827
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Opticocochleodentate Degeneration
Optic atrophy OMIM:258700
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hypoglycemia, Low plasma citrulline, Optic atrophy, Fasting hypoglycemia, Impaired gluconeogenesis OMIM:261680
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Diabetes mellitus, Optic atrophy, Retinal degeneration OMIM:249270
Retinitis Pigmentosa 43
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst... OMIM:613810
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
Amaurosis-Hypertrichosis Syndrome
Cone/cone-rod dystrophy, Optic atrophy, Retinal dystrophy ORPHA:1021
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... OMIM:600132
Juvenile Glaucoma
Optic neuropathy, Retinal arterial occlusion, Retinal vein occlusion, Abnormal optic nerve morpho... ORPHA:98977
Osteopetrosis, Autosomal Recessive 2
Cranial nerve compression, Cranial hyperostosis, Optic atrophy, Diaphyseal sclerosis, Decreased o... OMIM:259710
Leber Optic Atrophy
Central retinal vessel vascular tortuosity, Optic atrophy, Leber optic atrophy, Optic neuropathy OMIM:535000
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:613983
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Papilledema, Osteolysis involving bones of the upper limbs, Osteoporosis, Osteolysis,... ORPHA:371428
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... ORPHA:448237
Dysosteosclerosis
Craniofacial hyperostosis, Increased bone mineral density, Optic atrophy, Abnormal cranial nerve ... ORPHA:1782
Retinitis Pigmentosa 66
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615233
Mitochondrial Complex I Deficiency, Nuclear Type 27
Optic atrophy OMIM:618248
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Optic atrophy, Sensory axonal neuropathy, Motor axonal neuropathy OMIM:609541
Jalili Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1873
Wildervanck Syndrome
Pseudopapilledema, Facial palsy ORPHA:3456
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... ORPHA:320406
Osteopetrosis, Autosomal Recessive 1
Increased bone mineral density, Facial palsy, Craniosynostosis, Optic atrophy, Hypocalcemia, Oste... OMIM:259700
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Wolfram Syndrome 2
Diabetes mellitus, Optic atrophy, Optic neuropathy OMIM:604928
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Elevated cir... OMIM:614643
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Rod-cone dystrophy, Macular atrophy OMIM:615434
Glaucoma, Primary Closed-Angle
Increased cup-to-disc ratio OMIM:618880
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Decreased serum iron, Epi... OMIM:616959
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Optic atrophy, Decrease... ORPHA:96180
Mitochondrial Complex I Deficiency, Nuclear Type 28
Hyperalaninemia, Optic atrophy, Optic disc pallor, Optic neuropathy OMIM:618249
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Papilledema, Increased bone mineral density, Retinal calcification, H... OMIM:127000
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
Papilloma Of Choroid Plexus
Papilledema OMIM:260500
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Mildly elevated creatine kinase, Elevated circulating alpha-fetoprotein concentration ORPHA:95433
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Increased bone mineral density, Choroidal neovascularization, Optic neuropathy, Re... OMIM:259900
Peroxisome Biogenesis Disorder 1B
Hyperoxaluria, Rod-cone dystrophy, Optic atrophy, Epiphyseal stippling OMIM:601539
Pierson Syndrome
Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorrhage, Posterior lentic... OMIM:609049
Retinitis Pigmentosa 74
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Pigmentary retinopathy, Retinal dysplasia, Optic atrophy, Elevated circulating creatine kinase co... OMIM:613154
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Optic atrophy, Osteopetrosis, Optic nerve compression, Hypoc... OMIM:612301
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Optic atrophy, Type II diabetes mellitus OMIM:604121
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal nonattachment, Iris coloboma, Remnants of the hyaloid vascular system, Retinal fold OMIM:221900
Leber Congenital Amaurosis 15
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg... OMIM:613843
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Retinal h... ORPHA:637
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Congenital stationary night blindness, Insulin-resistant diabetes mellitus, Abnormal optic disc m... ORPHA:293967
Atelis Syndrome 2
Vitreous hemorrhage, Hyperinsulinemia, Remnants of the hyaloid vascular system OMIM:620185
Autosomal Dominant Kenny-Caffey Syndrome
Papilledema, Retinal calcification, Cortical thickening of long bone diaphyses, Hyperphosphatemia... ORPHA:93325
Fuchs Heterochromic Iridocyclitis
Papilledema, Optic disc pallor, Retinal perforation, Vitreous floaters, Epiretinal membrane, Chor... ORPHA:263479
Stankiewicz-Isidor Syndrome
Abnormal optic disc morphology OMIM:617516
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Norrie Disease
Retinal detachment, Retinal fold, Optic atrophy, Retinal dysplasia 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
Abnormal optic disc morphology, Subretinal deposits, Retinal dystrophy, Early ossification of cap... ORPHA:397715
Sympathetic Ophthalmia
Retinal detachment, Papilledema, Vitreous floaters, Vitritis, Retinal hemorrhage, Macular edema, ... ORPHA:79098
Norrie Disease
Retinal detachment, Diabetes mellitus, Abnormal chorioretinal morphology, Remnants of the hyaloid... ORPHA:649
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Facial palsy, Coloboma, Abnormal optic disc morphology, Retinal coloboma,... ORPHA:508498
7Q11.23 Microduplication Syndrome
Abnormal optic disc morphology, Craniosynostosis ORPHA:96121
Holoprosencephaly 2
Cyclopia, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma OMIM:157170
Microphthalmia, Syndromic 2
Retinal detachment, Remnants of the hyaloid vascular system, Iris coloboma OMIM:300166
Neuroocular Syndrome
Hypoplasia of the fovea, Lens coloboma, 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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