Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal bone structure Pcif1em1(IMPC)Bay HOM Early adult 9.78×10-07
abnormal optic disk morphology Pcif1em1(IMPC)Bay HOM Early adult 4.20×10-05
hyperactivity Pcif1em1(IMPC)Bay HOM Early adult 7.02×10-05
preweaning lethality, incomplete penetrance Pcif1em1(IMPC)Bay HOM Early adult 0.00
decreased thigmotaxis Pcif1em1(IMPC)Bay HOM Early adult 1.31×10-11
decreased total body fat amount Pcif1em1(IMPC)Bay HOM Early adult 9.36×10-07
abnormal retina outer nuclear layer morphology Pcif1em1(IMPC)Bay HOM Early adult 1.21×10-08
increased lean body mass Pcif1em1(IMPC)Bay HOM Early adult 6.93×10-08
abnormal retina morphology Pcif1em1(IMPC)Bay HOM Early adult 4.62×10-06
decreased body length Pcif1em1(IMPC)Bay HOM Early adult 5.43×10-05

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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 eye

14 Images

Eye Morphology

VIP of left fundus

14 Images

Eye Morphology

VIP of right fundus

14 Images

Eye Morphology

VIP of right eye

14 Images

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
Cystoid macular edema, Rod-cone dystrophy, Perifoveal ring of hyperautofluorescence, Peripapillar... OMIM:612943
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Decreased body weight, Chorioretinal degeneration OMIM:616311
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Retinitis Pigmentosa 36
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... 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
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,... OMIM:612712
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Attenuation of retinal blood vessels OMIM:165510
Morm Syndrome
Retinal dystrophy, Hyperactivity, Retinal atrophy, Truncal obesity, Aggressive behavior ORPHA:75858
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior ORPHA:356996
Liberfarb Syndrome
Bone spicule pigmentation of the retina, Delayed epiphyseal ossification, Retinal degeneration, R... 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, Claw hand deformity, Optic disc pallor 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, Retinal thinning, Choroidal neovascularization, Vitritis, Cyst... ORPHA:179
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Leber Congenital Amaurosis 19
Retinal degeneration, Attenuation of retinal blood vessels, Optic disc pallor OMIM:618513
Retinitis Pigmentosa 57
Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess... OMIM:613582
Retinitis Pigmentosa 71
Optic disc drusen, Attenuation of retinal blood vessels, Perifoveal ring of hyperautofluorescence... OMIM:616394
Retinitis Pigmentosa 30
Optic atrophy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of ret... OMIM:607921
Wagner Vitreoretinopathy
Optic atrophy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitreoretinopathy... OMIM:143200
Wolfram-Like Syndrome, Autosomal Dominant
Optic atrophy, Depression, Optic disc pallor OMIM:614296
Retinitis Pigmentosa 33
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:610359
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Optic atrophy, Camptodactyly of finger, Inappropriate laughter, Flexion contracture of toe OMIM:619323
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy ORPHA:2253
Peripheral Cone Dystrophy
Optic atrophy, Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic disc pallor 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, Failure to thrive, Dysphagia OMIM:271930
Retinitis Pigmentosa 32
Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Pigmentary reti... OMIM:609913
Atypical Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Irritability, Depression, Emotional lability, Compulsive behaviors, Impulsivity, R... ORPHA:216873
Retinitis Pigmentosa 11
Bone spicule pigmentation of the retina, Macular degeneration, Perifoveal ring of hyperautofluore... 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, Hyperactivity, Elbow flexion contracture, Motor stereotypy, Aggressive behavior OMIM:619470
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Retinal dystrophy OMIM:614706
Retinitis Pigmentosa 62
Bone spicule pigmentation of the retina, Bull's eye maculopathy, Attenuation of retinal blood ves... OMIM:614181
Retinitis Pigmentosa 81
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,... OMIM:617871
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
Retinitis Pigmentosa 50
Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Rod-cone dystrophy, Opt... OMIM:613194
Autosomal Recessive Spastic Paraplegia Type 45
Optic atrophy, Ankle flexion contracture, Flexion contracture of toe, Knee flexion contracture ORPHA:320396
Cone-Rod Dystrophy 16
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... OMIM:614500
Leber Congenital Amaurosis 9
Optic atrophy, Macular coloboma, Macular hypopigmentation, Bone spicule pigmentation of the retin... 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
Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti... OMIM:312700
Developmental And Epileptic Encephalopathy 58
Optic atrophy, Motor stereotypy OMIM:617830
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Macular exudate, Reduced bone mineral density, Retinal neovascularization... ORPHA:891
Retinitis Pigmentosa 95
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Perifoveal ring of... OMIM:620102
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Irvan Syndrome
Optic atrophy, Retinal exudate, Retinal detachment, Vitreous floaters, Tractional retinal detachm... ORPHA:209943
Leber Congenital Amaurosis 2
Eye poking, Optic disc pallor, Fundus atrophy, Attenuation of retinal blood vessels, Absent fovea... OMIM:204100
Fraxe Intellectual Disability
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... ORPHA:100973
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy, Orbital craniosynostosis ORPHA:1538
Retinal Dystrophy And Obesity
Retinal dystrophy, Retinal detachment, Retinal dots, Obesity, Attenuation of retinal blood vessel... OMIM:616188
Retinitis Pigmentosa 73
Bone spicule pigmentation of the retina, Geographic atrophy, Retinal atrophy, Macular crystals, E... OMIM:616544
Optic Atrophy 6
Optic atrophy, Retinal degeneration OMIM:258500
Retinitis Pigmentosa 38
Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy, Optic disc pallor OMIM:613862
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, Irritability, Depression, Macular degeneration, Flexion contracture, Retinal degen... OMIM:256730
Pandas
Anorexia, Obsessive-compulsive trait, Irritability, Abnormal fear-induced behavior, Depression, E... 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
Optic atrophy, Self-injurious behavior, Increased skull ossification, Motor stereotypy OMIM:619690
Congenital Disorder Of Glycosylation, Type Iaa
Failure to thrive, Attenuation of retinal blood vessels, Optic disc pallor, Pseudobulbar paralysis OMIM:617082
Microphthalmia, Isolated 5
Bone spicule pigmentation of the retina, Foveoschisis, Cystoid macular edema, Optic disc drusen, ... OMIM:611040
Retinitis Pigmentosa 19
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:601718
Retinitis Pigmentosa 63
Rod-cone dystrophy, Optic disc pallor OMIM:614494
Usher Syndrome, Type Iiib
Attenuation of retinal blood vessels, Optic disc pallor, Bull's eye maculopathy OMIM:614504
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Peripheral axonal neuropathy, Optic disc pallor, Decreased number of large periphe... OMIM:617087
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Cone-Rod Dystrophy 17
Cone/cone-rod dystrophy, Optic disc pallor OMIM:615163
Merrf
Optic atrophy, Multiple lipomas ORPHA:551
Intellectual Developmental Disorder And Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:618195
Night Blindness, Congenital Stationary, Type 1G
Congenital stationary night blindness, Rod-cone dystrophy, Optic disc pallor OMIM:616389
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Hyperactivity, Aggressive behavior OMIM:300983
Cherubism
Optic atrophy, Bone cyst ORPHA:184
Retinitis Pigmentosa 88
Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular edema, Attenuation... OMIM:618826
Retinitis Pigmentosa 26
Attenuation of retinal blood vessels, Rod-cone dystrophy, Optic disc pallor OMIM:608380
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Retinopathy, Pigmentary retinopathy OMIM:610951
Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects
Optic atrophy, Self-mutilation, Exudative vitreoretinopathy, Dysphagia, Restlessness, Small for g... OMIM:615075
Retinitis Pigmentosa 76
Retinal thinning, Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, C... OMIM:617123
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor OMIM:606068
Central Retinal Vein Occlusion
Retinal neovascularization, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage,... ORPHA:411527
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Optic atrophy, Craniosynostosis, Facial palsy, Increased bone mineral density ORPHA:178377
Sclerosteosis
Optic atrophy, Abnormal cortical bone morphology, Craniofacial hyperostosis, Increased bone miner... ORPHA:3152
Optic Atrophy 12
Optic atrophy, Optic disc pallor OMIM:618977
Craniodiaphyseal Dysplasia, Autosomal Dominant
Optic atrophy, Craniofacial hyperostosis, Diaphyseal sclerosis, Facial diplegia, Cortical scleros... OMIM:122860
Mitochondrial Complex I Deficiency, Nuclear Type 15
Optic atrophy, Irritability, Failure to thrive, Neonatal death, Flexion contracture OMIM:618237
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Optic atrophy, Severe temper tantrums OMIM:619052
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Failure to thrive, Hyperactivity OMIM:274270
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Optic atrophy, Dysphagia ORPHA:1171
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Macular atrophy, Optic disc pallor OMIM:604393
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Decreased sensory nerve conduction velocity, Decreased number of peripheral myelin... OMIM:609260
Retinitis Pigmentosa 79
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy, O... OMIM:617460
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Optic atrophy, Osteoporosis 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
Retinal dystrophy, Retinal detachment, Abnormality of retinal pigmentation, Chorioretinal dysplas... OMIM:251270
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Optic atrophy, Sensory axonal neuropathy, Dysphagia, Depression ORPHA:329314
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Optic atrophy, Peripheral axonal neuropathy, Dysphagia OMIM:620221
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:619031
Cone-Rod Dystrophy, X-Linked, 3
Retinal detachment, Abnormality of macular pigmentation, Cone/cone-rod dystrophy, Absent foveal r... OMIM:300476
Spinocerebellar Ataxia 7
Optic atrophy, Macular degeneration, Dysphagia, Pigmentary retinopathy OMIM:164500
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Irritability, Dysphagia, Rod-cone dystrophy, Pigmentary retinopathy OMIM:264470
Retinitis Pigmentosa 1
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:180100
Glycine Encephalopathy 1
Irritability, Hyperactivity, Impulsivity, Restlessness, Aggressive behavior OMIM:605899
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic atrophy, Optic disc pallor OMIM:182830
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Optic atrophy, Dysphagia, Optic disc pallor OMIM:617086
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru... OMIM:600059
Early-Onset X-Linked Optic Atrophy
Optic atrophy, Decreased nerve conduction velocity, Emotional lability, Optic disc pallor ORPHA:98890
Hsd10 Mitochondrial Disease
Optic atrophy, Agitation, Restlessness, Retinal degeneration, Aggressive behavior OMIM:300438
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Optic atrophy, Peripheral axonal neuropathy, Depression OMIM:619425
Salt And Pepper Developmental Regression Syndrome
Optic atrophy, Failure to thrive, Irritability OMIM:609056
Macular Dystrophy With Central Cone Involvement
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Optic disc pallor, Bull's eye maculo... OMIM:616170
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones, Optic atrop... OMIM:239100
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Optic disc pallor, Retinal dystrophy OMIM:616079
Usher Syndrome, Type 1M
Drusen, Optic disc pallor OMIM:618632
Craniodiaphyseal Dysplasia
Optic atrophy, Craniofacial hyperostosis ORPHA:1513
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Optic atrophy, Rod-cone dystrophy, Segmental peripheral demyelination/remyelination, Onion bulb f... OMIM:311070
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Cystoid macular edema, Nummular pigmentation of the fund... OMIM:618613
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Papilledema, Retinal arteriolar constriction OMIM:124950
Retinitis Pigmentosa 78
Cystoid macular edema, Optic disc pallor OMIM:617433
Retinitis Pigmentosa 12
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:600105
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, 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, Irritability, Decreased nerve conduction velocity, Foot joint contracture, Sensory... ORPHA:457205
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Retinal thinning, Optic disc pallor OMIM:618970
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Retinal degeneration, Rod-cone dystrophy, Cone/cone-rod dystrophy OMIM:602271
Leber Congenital Amaurosis 14
Rod-cone dystrophy, Optic disc pallor, Retinal dystrophy OMIM:613341
Eales Disease
Retinal thinning, Peripheral retinal neovascularization, Cystoid macular edema, Vitreous floaters... ORPHA:40923
Narp Syndrome
Irritability, Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinal arteriolar tortuos... ORPHA:644
3-Methylglutaconic Aciduria Type 9
Optic atrophy, Failure to thrive, Slender build, Aggressive behavior ORPHA:505216
Retinitis Pigmentosa 10
Bone spicule pigmentation of the retina, Geographic atrophy, Bull's eye maculopathy, Attenuation ... OMIM:180105
Retinitis Pigmentosa 41
Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary retinopathy, Attenuatio... OMIM:612095
Riboflavin Transporter Deficiency
Abnormal cranial nerve morphology, Abnormality of macular pigmentation, Cachexia, Facial palsy, A... ORPHA:97229
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Optic atrophy, Failure to thrive, Hyperactivity, Aggressive behavior ORPHA:369939
Microcephaly, Amish Type
Optic atrophy, Irritability, Failure to thrive, Flexion contracture, Hypoplasia of the fovea OMIM:607196
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Cone-Rod Dystrophy 3
Pigmentary retinopathy, Bull's eye maculopathy, Cone/cone-rod dystrophy, Attenuation of retinal b... OMIM:604116
Retinal Dystrophy And Microvillus Inclusion Disease
Osteopenia, Optic disc pallor OMIM:619446
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
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:613617
Jalili Syndrome
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... OMIM:217080
Optic Atrophy 14
Optic disc pallor OMIM:620550
Cone-Rod Dystrophy 20
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor OMIM:615973
Retinitis Pigmentosa 46
Attenuation of retinal blood vessels, Rod-cone dystrophy, Optic disc pallor, Pigmentary retinopathy OMIM:612572
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Hyperactivity, Obesity, Abnormal aggressi... ORPHA:3077
Classic Pantothenate Kinase-Associated Neurodegeneration
Pigmentary retinopathy, Dysphagia, Weight loss, Attention deficit hyperactivity disorder, Rod-con... ORPHA:216866
Spastic Paraplegia Type 7
Optic atrophy, Attention deficit hyperactivity disorder, Dysphagia, Optic disc pallor ORPHA:99013
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy ORPHA:85297
Retinitis Pigmentosa 25
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of retinal blood vess... OMIM:602772
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Abnormal autonomic nervous system physiology, Aggressive behavior ORPHA:329284
Optic Atrophy 5
Optic atrophy, Optic disc pallor OMIM:610708
Spastic Paraplegia 85, Autosomal Recessive
Optic atrophy, Peripheral axonal neuropathy, Dysphagia OMIM:619686
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Optic atrophy, Emotional lability ORPHA:254343
Juvenile Paget Disease
Optic atrophy, Cranial hyperostosis, Osteoporosis, Abnormality of retinal pigmentation, Coarse me... ORPHA:2801
Retinitis Pigmentosa 56
Bone spicule pigmentation of the retina, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:613581
Diencephalic Syndrome
Optic atrophy, Cachexia, Decreased body weight ORPHA:1672
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Optic atrophy, Agitation, Aggressive behavior, Retinal detachment, Chorioretinal lacunae, Attenti... OMIM:152950
Retinitis Pigmentosa 49
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613756
Behr Syndrome
Optic atrophy, Adductor longus contractures, Sensory axonal neuropathy, Hamstring contractures, A... OMIM:210000
8p23.1 deletion syndrome
Hyperactivity, Congenital diaphragmatic hernia DECIPHER:39
Juvenile Neuronal Ceroid Lipofuscinosis
Depression, Emotional lability, Pigmentary retinopathy, Dysphagia, Motor stereotypy, Retinal dege... ORPHA:79264
Craniotelencephalic Dysplasia
Optic atrophy, Craniosynostosis, Septo-optic dysplasia ORPHA:1528
Idiopathic Intracranial Hypertension
Depression, Obesity, Papilledema, Abnormal emotion ORPHA:238624
Retinitis Pigmentosa 43
Bone spicule pigmentation of the retina, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:613810
Jalili Syndrome
Optic atrophy, Abnormal dental enamel morphology, Abnormality of retinal pigmentation, Amelogenes... 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, Failure to thrive, Osteopetrosis, Facial palsy OMIM:615085
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Decreased sensory nerve conduction velocity, Bone spicule pigmentation of the reti... OMIM:609033
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy
Craniosynostosis, Irritability, Flexion contracture, Optic disc pallor OMIM:619076
Retinitis Pigmentosa 72
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Peripapillary atro... OMIM:616469
Developmental Delay, Language Impairment, And Ocular Abnormalities
Inguinal hernia, Hyperactivity, Frequent temper tantrums, Impulsivity, Motor stereotypy, Attentio... OMIM:620141
Developmental And Speech Delay Due To Sox5 Deficiency
Optic atrophy, Motor stereotypy, Attention deficit hyperactivity disorder, Self-injurious behavio... ORPHA:313892
Chromosome 19P13.13 Deletion Syndrome
Optic atrophy, Optic nerve hypoplasia, Self-injurious behavior OMIM:613638
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Anorexia, Retinal dystrophy ORPHA:49827
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Irritability, Cherry red spot of the macula, Optic disc pallor OMIM:615281
Severe Early-Childhood-Onset Retinal Dystrophy
Granular macular appearance, Macular coloboma, Bone spicule pigmentation of the retina, Retinal d... ORPHA:364055
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Osteopetrosis, Increased bone mineral density, Facial palsy, Optic disc pallor OMIM:611490
Retinitis Pigmentosa 14
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor, Retinal arteriola... OMIM:600132
Retinitis Pigmentosa 60
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:613983
Infantile Neuroaxonal Dystrophy
Optic atrophy, Hyperactivity, Peripheral axonal neuropathy, Emotional lability, Abnormal autonomi... 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, Decreased nerve conduction velocity, Abnormality of peripheral nerve conduction, P... ORPHA:280234
Amaurosis-Hypertrichosis Syndrome
Optic atrophy, Cone/cone-rod dystrophy, Retinal 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, Decreased sensory nerve conduction velocity, Hyperactivity, Optic nerve hypoplasia... OMIM:617302
Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Osteopenia, Depression, Emotional lability, Compulsive behaviors, Impulsivity, Bul... ORPHA:157850
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Vitreoretinopathy, Retinal vascular tortuosity, Abnormal optic disc morphology ORPHA:440727
Lamb-Shaffer Syndrome
Optic atrophy, Abnormal temper tantrums, Hyperactivity, Motor stereotypy ORPHA:530983
Canavan Disease
Optic atrophy, Abnormality of retinal pigmentation, Flexion contracture ORPHA:141
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Hyperostosis Cranialis Interna
Optic atrophy, Calvarial hyperostosis, Facial palsy, Hyperostosis cranialis interna, 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, Temporal optic disc pallor, Absent brainstem auditory responses, Abnormal retinal ... ORPHA:1215
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Prolonged somatosensory evoked potentials OMIM:616648
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Sensory axonal neuropathy, Flexion contracture, Motor axonal neuropathy, Optic dis... OMIM:609541
Zika Virus Disease
Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic disc morphology, Absent foveal refle... ORPHA:448237
Retinitis Pigmentosa 66
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor OMIM:615233
Combined Oxidative Phosphorylation Deficiency 7
Optic atrophy, Facial diplegia, Failure to thrive, Dysphagia, Facial paralysis OMIM:613559
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Rod-cone dystrophy, Macular atrophy, Optic disc pallor OMIM:615434
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Irritability, Delayed brainstem auditory evoked response conduction time, Failure ... OMIM:616881
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Papilledema, Osteopetrosis, Cortical sclerosis OMIM:620366
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Peripheral axonal neuropathy, Decreased number of peripheral myelinated nerve fibe... ORPHA:320406
Mucopolysaccharidosis, Type Iiic
Dense calvaria, Hyperactivity, Dysphagia, Hernia, Rod-cone dystrophy OMIM:252930
Retinitis Pigmentosa And Erythrocytic Microcytosis
Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Retinal atrophy... OMIM:616959
Dysosteosclerosis
Optic atrophy, Craniofacial hyperostosis, Abnormal cranial nerve morphology, Abnormal dental enam... ORPHA:1782
Juvenile Glaucoma
Temporal optic disc pallor, Retinal arterial occlusion, Optic neuropathy, Abnormal optic nerve mo... ORPHA:98977
Cerebral Visual Impairment
Optic atrophy, Optic nerve hypoplasia, Attention deficit hyperactivity disorder, Increased cup-to... ORPHA:447788
Opticocochleodentate Degeneration
Optic atrophy OMIM:258700
Sturge-Weber Syndrome
Optic atrophy, Retinal detachment, Hyperostosis, Dysphagia, Abnormal retinal vascular morphology,... ORPHA:3205
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic atrophy, Pigmentary retinopathy, Failure to thrive, Limb joint contracture, Dysphagia, Opti... OMIM:617282
Osteopetrosis, Autosomal Recessive 2
Optic atrophy, Cranial hyperostosis, Osteopetrosis, Diaphyseal sclerosis, Decreased osteoclast co... OMIM:259710
Leber Congenital Amaurosis 15
Eye poking, Optic disc pallor, Attenuation of retinal blood vessels, Peripapillary atrophy, Retin... OMIM:613843
Norrie Disease
Optic atrophy, Retinal dysplasia, Retinal detachment, Retinal fold, Aggressive behavior OMIM:310600
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Leber Optic Atrophy
Optic atrophy, Central retinal vessel vascular tortuosity, Optic neuropathy, Leber optic atrophy OMIM:535000
Retinitis Pigmentosa
Optic atrophy, Bone spicule pigmentation of the retina, Obesity, Attenuation of retinal blood ves... ORPHA:791
Pontocerebellar Hypoplasia, Type 2A
Optic atrophy, Dysphagia, Restlessness, Congenital contracture OMIM:277470
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Cherry red spot of the macula ORPHA:309246
Retinitis Pigmentosa 74
Obesity, Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor OMIM:616562
Amish Lethal Microcephaly
Optic atrophy, Irritability, Decreased skull ossification, Osteoporosis ORPHA:99742
Pettigrew Syndrome
Optic atrophy, Calvarial osteosclerosis, Stereotypical hand wringing, Flexion contracture, Self-i... OMIM:304340
Stankiewicz-Isidor Syndrome
Hyperactivity, Abnormal optic disc morphology OMIM:617516
Wolfram Syndrome 2
Optic atrophy, Depression, Optic neuropathy OMIM:604928
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Carpal osteolysis, Osteolysis involving bones of the lower limbs, Osteolysis involvin... ORPHA:371428
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy, Pigmentary retinopathy OMIM:300578
Joubert Syndrome 1
Retinal dystrophy, Retinal dysplasia, Hyperactivity, Chorioretinal coloboma, Optic disc coloboma,... OMIM:213300
Mucopolysaccharidosis Type 2
Optic atrophy, Abnormal temper tantrums, Decreased nerve conduction velocity, Inguinal hernia, Fl... ORPHA:580
Fuchs Heterochromic Iridocyclitis
Vitreous floaters, Chorioretinal scar, Optic disc pallor, Epiretinal membrane, Papilledema, Retin... ORPHA:263479
Mitochondrial Complex I Deficiency, Nuclear Type 28
Optic atrophy, Failure to thrive, Optic disc pallor, Optic neuropathy OMIM:618249
Neurodegeneration With Brain Iron Accumulation 4
Optic atrophy, Depression, Emotional lability, Impulsivity, Motor axonal neuropathy, Abnormal low... OMIM:614298
Joubert Syndrome 8
Obesity, Pigmentary retinopathy, Optic disc pallor OMIM:612291
Combined Oxidative Phosphorylation Deficiency 29
Retinopathy, Optic atrophy, Optic neuropathy, Axonal degeneration OMIM:616811
Neurodegeneration With Brain Iron Accumulation 2B
Optic atrophy, Emotional lability, Hyperactivity, Impulsivity, Dysphagia 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, Anorexia, Retinal detachment, Osteoporosis, Abnormality of retinal pigmentation, H... ORPHA:394
Neurodegeneration With Brain Iron Accumulation 1
Optic atrophy, Obsessive-compulsive trait, Hyperactivity, Depression, Phonic tics, Dysphagia, Mot... OMIM:234200
Kenny-Caffey Syndrome, Type 2
Retinal calcification, Increased bone mineral density, Papilledema, Thickened cortex of long bone... OMIM:127000
Dpagt1-Cdg
Optic atrophy, Emotional blunting, Head-banging, Camptodactyly, Diffuse optic disc pallor, Osteop... ORPHA:86309
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Flexion contracture, Pigmentary retinopathy, Retinal dysplasia OMIM:613154
Hyperoxaluria, Primary, Type I
Optic atrophy, Choroidal neovascularization, Increased bone mineral density, Optic neuropathy, Re... OMIM:259900
7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Inguinal hernia, Craniosynostosis, Hyperactivity, Polyphagia, Ab... ORPHA:96121
Peroxisome Biogenesis Disorder 1B
Optic atrophy, Rod-cone dystrophy, Epiphyseal stippling OMIM:601539
Camurati-Engelmann Disease
Optic atrophy, Anorexia, Abnormal subcutaneous fat tissue distribution, Optic nerve compression, ... ORPHA:1328
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Congenital stationary night blindness, Contracture of the proximal interphalangeal joint of the 5... ORPHA:293967
Primary Hyperoxaluria
Optic atrophy, Choroidal neovascularization, Retinopathy, Failure to thrive, Generalized osteoscl... ORPHA:416
Temtamy Preaxial Brachydactyly Syndrome
Optic atrophy, Abnormal optic disc morphology ORPHA:363417
Sympathetic Ophthalmia
Retinal detachment, Vitreous floaters, Depigmented fundus, Retinal hemorrhage, Papilledema, Macul... ORPHA:79098
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Early ossification of capital femoral epiphyses, Retinal dystrophy, Abnormal optic disc morpholog... ORPHA:397715
Norrie Disease
Abnormal chorioretinal morphology, Optic atrophy, Irritability, Abnormal vitreous humor morpholog... ORPHA:649
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Facial palsy, Retinal coloboma, Abnormal optic disc morphology, Motor ste... 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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