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Gene: Pcif1 MGI:2443858

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Gene Summary

Name:
phosphorylated CTD interacting factor 1
Synonyms:
F730014I05Rik,  2310022K11Rik

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
preweaning lethality, incomplete penetrance Pcif1em1(IMPC)Bay HOM Early adult 0.00
decreased thigmotaxis Pcif1em1(IMPC)Bay HOM Early adult 1.31×10-11
abnormal bone structure Pcif1em1(IMPC)Bay HOM Early adult 9.78×10-07
hyperactivity Pcif1em1(IMPC)Bay HOM Early adult 6.93×10-05
abnormal retina outer nuclear layer morphology Pcif1em1(IMPC)Bay HOM Early adult 1.21×10-08
decreased body length Pcif1em1(IMPC)Bay HOM Early adult 5.43×10-05
abnormal retina morphology Pcif1em1(IMPC)Bay HOM Early adult 4.62×10-06
increased lean body mass Pcif1em1(IMPC)Bay HOM Early adult 6.93×10-08
decreased total body fat amount Pcif1em1(IMPC)Bay HOM Early adult 9.36×10-07
abnormal optic disk morphology Pcif1em1(IMPC)Bay HOM Early adult 4.20×10-05

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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.

Eye Morphology

VIP of left fundus

14 Images

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Eye Morphology

VIP of right eye

14 Images

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Eye Morphology

VIP of left eye

14 Images

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Eye Morphology

VIP of right fundus

14 Images

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Human diseases caused by Pcif1 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 Pcif1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinitis Pigmentosa 42
Peripapillary atrophy, Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Cystoid macu... OMIM:612943
Intellectual Developmental Disorder, Autosomal Dominant 33
Chorioretinal degeneration, Hyperactivity, Decreased body weight OMIM:616311
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Retinitis Pigmentosa 36
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:610599
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Auditory Neuropathy And Optic Atrophy
Optic atrophy, Rod-cone dystrophy OMIM:617717
Leber Congenital Amaurosis 13
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:612712
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Attenuation of retinal blood vessels OMIM:165510
Morm Syndrome
Aggressive behavior, Retinal atrophy, Hyperactivity, Truncal obesity, Retinal dystrophy ORPHA:75858
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Large for gestational age, Aggressive behavior, Hyperactivity ORPHA:356996
Liberfarb Syndrome
Delayed epiphyseal ossification, Retinal pigment epithelial mottling, Retinal degeneration, Bone ... OMIM:618889
Optic Atrophy 9
Optic atrophy, Optic disc pallor OMIM:616289
Optic Atrophy 2
Optic atrophy OMIM:311050
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy OMIM:165199
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy
Optic atrophy, Optic disc pallor, Claw hand deformity OMIM:618511
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy OMIM:136600
Leber-Like Hereditary Optic Neuropathy, Autosomal Recessive 2
Optic atrophy OMIM:620569
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Epiretinal mem... ORPHA:179
Schizophrenia 15
Hyperactivity OMIM:613950
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Retinitis Pigmentosa 57
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:613582
Retinitis Pigmentosa 71
Attenuation of retinal blood vessels, Optic disc drusen, Rod-cone dystrophy, Optic disc pallor, P... OMIM:616394
Retinitis Pigmentosa 30
Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta... OMIM:607921
Wagner Vitreoretinopathy
Peripheral tractional retinal detachment, Optic atrophy, Exudative vitreoretinopathy, Vitreoretin... OMIM:143200
Wolfram-Like Syndrome, Autosomal Dominant
Optic disc pallor, Depression, Optic atrophy OMIM:614296
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:610359
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Optic atrophy, Inappropriate laughter, Camptodactyly of finger, Flexion contracture of toe OMIM:619323
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy ORPHA:2253
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor OMIM:165300
Striatonigral Degeneration, Infantile
Optic atrophy, Dysphagia, Failure to thrive OMIM:271930
Retinitis Pigmentosa 32
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... OMIM:609913
Atypical Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Depression, Violent behavior, Retinopathy, Emotional lability, Irritability, Compu... ORPHA:216873
Retinitis Pigmentosa 11
Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,... OMIM:600138
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Hyperactivity OMIM:300928
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Elbow flexion contracture, Aggressive behavior, Hyperactivity, Motor stereotypy OMIM:619470
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Retinal dystrophy OMIM:614706
Retinitis Pigmentosa 62
Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... OMIM:614181
Retinitis Pigmentosa 81
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:617871
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
Retinitis Pigmentosa 50
Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Autosomal Recessive Spastic Paraplegia Type 45
Optic atrophy, Ankle flexion contracture, Knee flexion contracture, Flexion contracture of toe ORPHA:320396
Cone-Rod Dystrophy 16
Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sheen, Bone ... OMIM:614500
Leber Congenital Amaurosis 9
Optic atrophy, Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Retinal... OMIM:608553
Spastic Paraplegia 74, Autosomal Recessive
Optic atrophy, Peripheral axonal neuropathy OMIM:616451
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Developmental And Epileptic Encephalopathy 58
Optic atrophy, Motor stereotypy OMIM:617830
Familial Exudative Vitreoretinopathy
Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac... ORPHA:891
Retinitis Pigmentosa 95
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:620102
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Irvan Syndrome
Retinal exudate, Optic atrophy, Macular edema, Tractional retinal detachment, Vitreous floaters, ... ORPHA:209943
Leber Congenital Amaurosis 2
Pigmentary retinopathy, Attenuation of retinal blood vessels, Eye poking, Fundus atrophy, Optic d... OMIM:204100
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy, Orbital craniosynostosis ORPHA:1538
Retinal Dystrophy And Obesity
Obesity, Attenuation of retinal blood vessels, Retinal dots, Peripapillary atrophy, Retinal detac... OMIM:616188
Retinitis Pigmentosa 73
Epiretinal membrane, Peripapillary atrophy, Retinal atrophy, Bone spicule pigmentation of the ret... OMIM:616544
Optic Atrophy 6
Optic atrophy, Retinal degeneration OMIM:258500
Retinitis Pigmentosa 38
Optic disc pallor, Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy OMIM:613862
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, Macular degeneration, Depression, Retinal degeneration, Irritability, Flexion cont... OMIM:256730
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Optic atrophy, Motor stereotypy, Increased skull ossification OMIM:619690
Congenital Disorder Of Glycosylation, Type Iaa
Optic disc pallor, Attenuation of retinal blood vessels, Failure to thrive, Pseudobulbar paralysis OMIM:617082
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule pigmentat... OMIM:611040
Retinitis Pigmentosa 19
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:601718
Retinitis Pigmentosa 63
Optic disc pallor, Rod-cone dystrophy OMIM:614494
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Decreased number of large peripheral myelinated nerve fibers, Optic disc pallor, Optic atrophy, P... OMIM:617087
Usher Syndrome, Type Iiib
Optic disc pallor, Attenuation of retinal blood vessels, Bull's eye maculopathy OMIM:614504
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Cone-Rod Dystrophy 17
Optic disc pallor, Cone/cone-rod dystrophy OMIM:615163
Merrf
Optic atrophy, Multiple lipomas ORPHA:551
Intellectual Developmental Disorder And Retinitis Pigmentosa
Macular degeneration, Attenuation of retinal blood vessels, Peripapillary atrophy, Attention defi... OMIM:618195
Night Blindness, Congenital Stationary, Type 1G
Optic disc pallor, Rod-cone dystrophy, Congenital stationary night blindness OMIM:616389
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Aggressive behavior, Hyperactivity OMIM:300983
Cherubism
Optic atrophy, Bone cyst ORPHA:184
Retinitis Pigmentosa 88
Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule p... OMIM:618826
Retinitis Pigmentosa 26
Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:608380
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Pigmentary retinopathy, Retinopathy OMIM:610951
Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects
Exudative vitreoretinopathy, Optic atrophy, Self-mutilation, Aggressive behavior, Restlessness, D... OMIM:615075
Retinitis Pigmentosa 76
Retinal thinning, Hyperautofluorescent macular lesion, Peripapillary atrophy, Cystoid macular ede... OMIM:617123
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... ORPHA:411527
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Optic atrophy, Facial palsy, Craniosynostosis, Increased bone mineral density ORPHA:178377
Sclerosteosis
Optic atrophy, Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone miner... ORPHA:3152
Optic Atrophy 12
Optic atrophy, Optic disc pallor OMIM:618977
Craniodiaphyseal Dysplasia, Autosomal Dominant
Optic atrophy, Craniofacial hyperostosis, Craniofacial osteosclerosis, Cortical sclerosis, Facial... OMIM:122860
Mitochondrial Complex I Deficiency, Nuclear Type 15
Optic atrophy, Failure to thrive, Neonatal death, Irritability, Flexion contracture OMIM:618237
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Optic atrophy, Severe temper tantrums OMIM:619052
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Hyperactivity, Failure to thrive OMIM:274270
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Optic atrophy, Dysphagia ORPHA:1171
Leber Congenital Amaurosis 4
Optic disc pallor, Attenuation of retinal blood vessels, Macular atrophy, Cone/cone-rod dystrophy OMIM:604393
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velo... OMIM:609260
Retinitis Pigmentosa 79
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:617460
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Osteoporosis, Optic atrophy ORPHA:2787
Optic Atrophy 15
Optic atrophy, Optic disc pallor OMIM:620583
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy ORPHA:2773
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Optic disc pallor, Retinal detachment, Chorioretinal dysplas... OMIM:251270
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Optic atrophy, Depression, Dysphagia, Sensory axonal neuropathy ORPHA:329314
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Optic atrophy, Dysphagia, Peripheral axonal neuropathy OMIM:620221
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:619031
Cone-Rod Dystrophy, X-Linked, 3
Abnormality of macular pigmentation, Cone/cone-rod dystrophy, Retinal detachment, Optic disc pall... OMIM:300476
Spinocerebellar Ataxia 7
Optic atrophy, Pigmentary retinopathy, Macular degeneration, Dysphagia OMIM:164500
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Pigmentary retinopathy, Irritability, Rod-cone dystrophy, Dysphagia OMIM:264470
Retinitis Pigmentosa 1
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:180100
Glycine Encephalopathy 1
Irritability, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic atrophy, Optic disc pallor OMIM:182830
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... OMIM:600059
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Optic disc pallor, Optic atrophy, Dysphagia OMIM:617086
Early-Onset X-Linked Optic Atrophy
Optic atrophy, Optic disc pallor, Emotional lability, Decreased nerve conduction velocity ORPHA:98890
Hsd10 Mitochondrial Disease
Optic atrophy, Retinal degeneration, Aggressive behavior, Restlessness, Agitation OMIM:300438
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Optic atrophy, Depression, Peripheral axonal neuropathy OMIM:619425
Salt And Pepper Developmental Regression Syndrome
Optic atrophy, Failure to thrive, Irritability OMIM:609056
Macular Dystrophy With Central Cone Involvement
Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculopathy, Macular dyst... OMIM:616170
Van Buchem Disease
Thickened cortex of long bones, Optic atrophy from cranial nerve compression, Increased bone mine... OMIM:239100
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Optic disc pallor, Retinal dystrophy OMIM:616079
Usher Syndrome, Type 1M
Optic disc pallor, Drusen OMIM:618632
Craniodiaphyseal Dysplasia
Optic atrophy, Craniofacial hyperostosis ORPHA:1513
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Optic atrophy, Segmental peripheral demyelination/remyelination, Onion bulb formation, Rod-cone d... OMIM:311070
Retinitis Pigmentosa 86
Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,... OMIM:618613
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Papilledema, Retinal arteriolar constriction OMIM:124950
Retinitis Pigmentosa 78
Optic disc pallor, Cystoid macular edema OMIM:617433
Retinitis Pigmentosa 12
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:600105
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Infantile-Onset Spinocerebellar Ataxia
Optic atrophy, Abnormality of the autonomic nervous system ORPHA:1186
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Optic atrophy, Foot joint contracture, Sensory axonal neuropathy, Decreased nerve conduction velo... ORPHA:457205
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Retinal thinning OMIM:618970
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Retinal degeneration, Rod-cone dystrophy, Cone/cone-rod dystrophy OMIM:602271
Leber Congenital Amaurosis 14
Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy OMIM:613341
Eales Disease
Macular edema, Retinal thinning, Peripheral retinal neovascularization, Vitritis, Epiretinal memb... ORPHA:40923
Narp Syndrome
Retinal pigment epithelial mottling, Retinal arteriolar tortuosity, Irritability, Rod-cone dystro... ORPHA:644
3-Methylglutaconic Aciduria Type 9
Optic atrophy, Failure to thrive, Aggressive behavior, Slender build ORPHA:505216
Retinitis Pigmentosa 10
Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... OMIM:180105
Retinitis Pigmentosa 41
Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Bone spicule ... OMIM:612095
Riboflavin Transporter Deficiency
Abnormality of macular pigmentation, Abnormal cranial nerve morphology, Aggressive behavior, Cach... ORPHA:97229
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Optic atrophy, Aggressive behavior, Failure to thrive, Hyperactivity ORPHA:369939
Microcephaly, Amish Type
Optic atrophy, Failure to thrive, Irritability, Hypoplasia of the fovea, Flexion contracture OMIM:607196
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Retinal Dystrophy And Microvillus Inclusion Disease
Optic disc pallor, Osteopenia OMIM:619446
Cone-Rod Dystrophy 3
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bull's eye maculopathy, Cone/cone-r... OMIM:604116
Coenzyme Q10 Deficiency, Primary, 2
Optic atrophy, Obesity, Overweight, Bulimia OMIM:614651
Spastic Ataxia 4, Autosomal Recessive
Optic atrophy, Emotional lability OMIM:613672
Leber Optic Atrophy And Dystonia
Optic atrophy, Dysphagia, Leber optic atrophy OMIM:500001
Glaucoma 3, Primary Congenital, E
Increased cup-to-disc ratio OMIM:617272
Retinitis Pigmentosa 58
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:613617
Jalili Syndrome
Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Enamel agenesis, Cone/... OMIM:217080
Optic Atrophy 14
Optic disc pallor OMIM:620550
Cone-Rod Dystrophy 20
Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy OMIM:615973
Retinitis Pigmentosa 46
Optic disc pallor, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:612572
Classic Pantothenate Kinase-Associated Neurodegeneration
Pigmentary retinopathy, Attention deficit hyperactivity disorder, Weight loss, Rod-cone dystrophy... ORPHA:216866
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Obesity, Irritability, Aggressive behavior, Hyperactivity, Anorex... ORPHA:3077
Spastic Paraplegia Type 7
Optic disc pallor, Attention deficit hyperactivity disorder, Optic atrophy, Dysphagia ORPHA:99013
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy ORPHA:85297
Retinitis Pigmentosa 25
Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmentation of the ret... OMIM:602772
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Aggressive behavior, Abnormal autonomic nervous system physiology ORPHA:329284
Optic Atrophy 5
Optic atrophy, Optic disc pallor OMIM:610708
Spastic Paraplegia 85, Autosomal Recessive
Optic atrophy, Dysphagia, Peripheral axonal neuropathy OMIM:619686
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Optic atrophy, Emotional lability ORPHA:254343
Juvenile Paget Disease
Optic atrophy, Coarse metaphyseal trabecularization, Cranial hyperostosis, Abnormality of retinal... ORPHA:2801
Retinitis Pigmentosa 56
Pigmentary retinopathy, Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pig... OMIM:613581
Diencephalic Syndrome
Optic atrophy, Cachexia, Decreased body weight ORPHA:1672
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Optic atrophy, Aggressive behavior, Attention deficit hyperactivity disorder, Retinal detachment,... OMIM:152950
Retinitis Pigmentosa 49
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:613756
Behr Syndrome
Optic atrophy, Sensory axonal neuropathy, Hypoplastic optic chiasm, Hamstring contractures, Dysph... OMIM:210000
8p23.1 deletion syndrome
Congenital diaphragmatic hernia, Hyperactivity DECIPHER:39
Juvenile Neuronal Ceroid Lipofuscinosis
Pigmentary retinopathy, Depression, Emotional lability, Retinal degeneration, Motor stereotypy, O... ORPHA:79264
Craniotelencephalic Dysplasia
Optic atrophy, Septo-optic dysplasia, Craniosynostosis ORPHA:1528
Idiopathic Intracranial Hypertension
Depression, Obesity, Papilledema, Abnormal emotion ORPHA:238624
Retinitis Pigmentosa 43
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re... OMIM:613810
Jalili Syndrome
Abnormal dental enamel morphology, Optic atrophy, Amelogenesis imperfecta, Abnormality of retinal... ORPHA:1873
3-Methylglutaconic Aciduria, Type I
Optic atrophy, Failure to thrive, Self-mutilation OMIM:250950
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Retinal detachment, Chorioretinal coloboma ORPHA:1473
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Facial palsy, Osteopetrosis, Failure to thrive OMIM:615085
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Pigmentary retinopathy, Joint contracture of the hand, Peripheral demyelination, A... OMIM:609033
Leber Congenital Amaurosis
Abnormal optic disc morphology, Abnormality of retinal pigmentation ORPHA:65
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy
Optic disc pallor, Flexion contracture, Craniosynostosis, Irritability OMIM:619076
Retinitis Pigmentosa 72
Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule pigmentation of the ret... OMIM:616469
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Inguinal hernia, Aggressive behavior, Attention deficit hyperactivity d... OMIM:620141
Developmental And Speech Delay Due To Sox5 Deficiency
Self-injurious behavior, Optic atrophy, Aggressive behavior, Attention deficit hyperactivity diso... ORPHA:313892
Chromosome 19P13.13 Deletion Syndrome
Self-injurious behavior, Optic atrophy, Optic nerve hypoplasia OMIM:613638
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Retinal dystrophy, Anorexia ORPHA:49827
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Optic disc pallor, Irritability, Cherry red spot of the macula OMIM:615281
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal pigment epithelial mottling, Abnormal macular morphology, Attenuation of retinal blood ve... ORPHA:364055
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Osteopetrosis, Optic disc pallor, Facial palsy, Increased bone mineral density OMIM:611490
Retinitis Pigmentosa 14
Optic disc pallor, Rod-cone dystrophy, Retinal arteriolar constriction, Bone spicule pigmentation... OMIM:600132
Retinitis Pigmentosa 60
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:613983
Infantile Neuroaxonal Dystrophy
Optic atrophy, Abnormality of peripheral nerve conduction, Emotional lability, Peripheral axonal ... ORPHA:35069
Madras Motor Neuron Disease
Optic atrophy, Facial palsy, Dysphagia ORPHA:137867
Schindler Disease, Type I
Optic atrophy, Osteopenia OMIM:609241
Null Syndrome
Optic atrophy, Peripheral demyelination, Abnormality of peripheral nerve conduction, Decreased ne... ORPHA:280234
Amaurosis-Hypertrichosis Syndrome
Optic atrophy, Retinal dystrophy, Cone/cone-rod dystrophy ORPHA:1021
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Optic Atrophy 11
Optic atrophy, Cherry red spot of the macula, Stereotypical body rocking, Facial diplegia, Attent... OMIM:617302
Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Pigmentary retinopathy, Depression, Osteopenia, Bull's eye maculopathy, Emotional ... ORPHA:157850
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Abnormal optic disc morphology, Vitreoretinopathy, Retinal vascular tortuosity ORPHA:440727
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Optic atrophy, Motor stereotypy, Hyperactivity ORPHA:530983
Canavan Disease
Optic atrophy, Flexion contracture, Abnormality of retinal pigmentation ORPHA:141
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Hyperostosis Cranialis Interna
Optic atrophy, Hyperostosis cranialis interna, Calvarial hyperostosis, Facial palsy, Osteoscleros... OMIM:144755
Mesangial sclerosis, diffuse renal, with ocular abnormalities
Optic atrophy, Retinal arteriolar constriction OMIM:249660
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic atrophy, Rickets, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc p... OMIM:268315
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Motor axonal neuropathy, Abnormal retinal nerve fiber layer morphology, Absent bra... ORPHA:1215
Optic Atrophy 8
Optic atrophy, Prolonged somatosensory evoked potentials, Abnormal auditory evoked potentials OMIM:616648
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Sensory axonal neuropathy, Motor axonal neuropathy, Optic disc pallor, Flexion con... OMIM:609541
Zika Virus Disease
Retinal pigment epithelial mottling, Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic... ORPHA:448237
Retinitis Pigmentosa 66
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615233
Combined Oxidative Phosphorylation Deficiency 7
Optic atrophy, Facial paralysis, Failure to thrive, Facial diplegia, Dysphagia OMIM:613559
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Rod-cone dystrophy, Macular atrophy OMIM:615434
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Failure to thrive, Irr... OMIM:616881
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Papilledema, Osteopetrosis, Cortical sclerosis OMIM:620366
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Multiple joint contractures, Decreased number of peripheral myelinated nerve fiber... ORPHA:320406
Mucopolysaccharidosis, Type Iiic
Hernia, Hyperactivity, Rod-cone dystrophy, Dysphagia, Dense calvaria OMIM:252930
Retinitis Pigmentosa And Erythrocytic Microcytosis
Macular edema, Peripheral retinal atrophy, Epiretinal membrane, Attenuation of retinal blood vess... OMIM:616959
Dysosteosclerosis
Optic atrophy, Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Abnormal dental e... ORPHA:1782
Juvenile Glaucoma
Abnormal optic nerve morphology, Retinal vein occlusion, Retinal arterial occlusion, Increased cu... ORPHA:98977
Opticocochleodentate Degeneration
Optic atrophy OMIM:258700
Cerebral Visual Impairment
Optic atrophy, Attention deficit hyperactivity disorder, Retinopathy of prematurity, Optic disc p... ORPHA:447788
Sturge-Weber Syndrome
Optic atrophy, Hyperostosis, Abnormal choroid morphology, Attention deficit hyperactivity disorde... ORPHA:3205
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic atrophy, Pigmentary retinopathy, Failure to thrive, Limb joint contracture, Optic disc pall... OMIM:617282
Osteopetrosis, Autosomal Recessive 2
Optic atrophy, Facial paralysis, Cranial hyperostosis, Cranial nerve compression, Osteopetrosis, ... OMIM:259710
Leber Congenital Amaurosis 15
Pigmentary retinopathy, Attenuation of retinal blood vessels, Peripapillary atrophy, Dull foveal ... OMIM:613843
Norrie Disease
Optic atrophy, Aggressive behavior, Retinal detachment, Retinal fold, Retinal dysplasia OMIM:310600
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Leber Optic Atrophy
Optic atrophy, Central retinal vessel vascular tortuosity, Optic neuropathy, Leber optic atrophy OMIM:535000
Retinitis Pigmentosa
Optic atrophy, Obesity, Attenuation of retinal blood vessels, Abnormality of retinal pigmentation... ORPHA:791
Pontocerebellar Hypoplasia, Type 2A
Optic atrophy, Restlessness, Congenital contracture, Dysphagia OMIM:277470
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior, Cherry red spot of the macula ORPHA:309246
Retinitis Pigmentosa 74
Optic disc pallor, Pigmentary retinopathy, Obesity, Rod-cone dystrophy OMIM:616562
Amish Lethal Microcephaly
Decreased skull ossification, Optic atrophy, Osteoporosis, Irritability ORPHA:99742
Pettigrew Syndrome
Self-injurious behavior, Optic atrophy, Stereotypical hand wringing, Aggressive behavior, Calvari... OMIM:304340
Stankiewicz-Isidor Syndrome
Abnormal optic disc morphology, Hyperactivity OMIM:617516
Wolfram Syndrome 2
Optic atrophy, Depression, Optic neuropathy OMIM:604928
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Carpal osteolysis, Osteolysis involving tarsal bones, Papilledema, Osteolysis involvi... ORPHA:371428
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:300578
Joubert Syndrome 1
Optic disc coloboma, Chorioretinal coloboma, Self-mutilation, Aggressive behavior, Hyperactivity,... OMIM:213300
Mucopolysaccharidosis Type 2
Optic atrophy, Abnormal temper tantrums, Contractures of the large joints, Umbilical hernia, Decr... ORPHA:580
Fuchs Heterochromic Iridocyclitis
Chorioretinal scar, Epiretinal membrane, Retinal perforation, Vitreous floaters, Papilledema, Opt... ORPHA:263479
Mitochondrial Complex I Deficiency, Nuclear Type 28
Optic atrophy, Optic disc pallor, Optic neuropathy, Failure to thrive OMIM:618249
Neurodegeneration With Brain Iron Accumulation 4
Optic atrophy, Depression, Emotional lability, Motor axonal neuropathy, Abnormal lower motor neur... OMIM:614298
Joubert Syndrome 8
Optic disc pallor, Pigmentary retinopathy, Obesity OMIM:612291
Combined Oxidative Phosphorylation Deficiency 29
Optic atrophy, Optic neuropathy, Retinopathy, Axonal degeneration OMIM:616811
Neurodegeneration With Brain Iron Accumulation 2B
Optic atrophy, Emotional lability, Hyperactivity, Dysphagia, Impulsivity OMIM:610217
Glaucoma, Primary Closed-Angle
Increased cup-to-disc ratio OMIM:618880
Aniridia 2
Optic atrophy OMIM:617141
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Optic atrophy, Abnormality of retinal pigmentation, Hernia, Retinal detachment, Anorexia, Osteopo... ORPHA:394
Neurodegeneration With Brain Iron Accumulation 1
Phonic tics, Optic atrophy, Pigmentary retinopathy, Depression, Obsessive-compulsive trait, Retin... OMIM:234200
Kenny-Caffey Syndrome, Type 2
Thickened cortex of long bones, Papilledema, Increased bone mineral density, Retinal calcificatio... OMIM:127000
Dpagt1-Cdg
Optic atrophy, Head-banging, Failure to thrive, Stereotypical body rocking, Diffuse optic disc pa... ORPHA:86309
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Retinal dysplasia, Flexion contracture, Pigmentary retinopathy OMIM:613154
Hyperoxaluria, Primary, Type I
Optic atrophy, Choroidal neovascularization, Retinal crystals, Retinopathy, Increased bone minera... OMIM:259900
7Q11.23 Microduplication Syndrome
Self-injurious behavior, Obesity, Inguinal hernia, Congenital diaphragmatic hernia, Abnormal opti... ORPHA:96121
Peroxisome Biogenesis Disorder 1B
Optic atrophy, Epiphyseal stippling, Rod-cone dystrophy OMIM:601539
Camurati-Engelmann Disease
Optic atrophy, Craniofacial osteosclerosis, Slender build, Optic nerve compression, Hyperostosis,... ORPHA:1328
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Abnormal optic disc morphology, Contracture of the proximal interphalangeal joint of the 5th fing... ORPHA:293967
Primary Hyperoxaluria
Optic atrophy, Choroidal neovascularization, Failure to thrive, Retinopathy, Generalized osteoscl... ORPHA:416
Temtamy Preaxial Brachydactyly Syndrome
Abnormal optic disc morphology, Optic atrophy ORPHA:363417
Sympathetic Ophthalmia
Macular edema, Vitreous floaters, Papilledema, Retinal detachment, Retinal hemorrhage, Depigmente... ORPHA:79098
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Failure to thrive, Early ossification of capital femoral epiphyses, Abnormal optic disc morpholog... ORPHA:397715
Norrie Disease
Self-injurious behavior, Optic atrophy, Failure to thrive, Irritability, Abnormal vitreous humor ... ORPHA:649
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Retinal coloboma, Abnormal optic disc morphology, Facial palsy, Motor stereotypy, Optic nerve hyp... ORPHA:508498

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 Pcif1

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 Pcif1.

No publications found that use IMPC mice or data for Pcif1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Pcif1em1(IMPC)Bay Exon Deletion Mice
Pcif1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pcif1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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