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 behavior Pcif1em1(IMPC)Bay HOM Early adult 9.64×10-05
decreased thigmotaxis Pcif1em1(IMPC)Bay HOM Early adult 1.17×10-13
hyperactivity Pcif1em1(IMPC)Bay HOM Early adult 2.91×10-05
preweaning lethality, incomplete penetrance Pcif1em1(IMPC)Bay HOM   Early adult 0.00
abnormal bone structure Pcif1em1(IMPC)Bay HOM Early adult 8.09×10-07
increased lean body mass Pcif1em1(IMPC)Bay HOM Early adult 7.04×10-06
decreased body length Pcif1em1(IMPC)Bay HOM Early adult 2.99×10-05
decreased bone mineral content Pcif1em1(IMPC)Bay HOM Early adult 4.42×10-05
abnormal retina outer nuclear layer morphology Pcif1em1(IMPC)Bay HOM   Early adult 0.00
increased vertical activity Pcif1em1(IMPC)Bay HOM Early adult 8.35×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
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.

Eye Morphology

VIP of left eye

16 Images

Eye Morphology

VIP of right eye

13 Images

Eye Morphology

VIP of right fundus

8 Images

Eye Morphology

VIP of left fundus

8 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
Intellectual Developmental Disorder, Autosomal Dominant 33
Decreased body weight, Chorioretinal degeneration, Hyperactivity OMIM:616311
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age, Hyperactivity, Aggressive behavior ORPHA:356996
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Insulin-Like Growth Factor I Deficiency
Osteopenia, Decreased body weight, Hyperactivity OMIM:608747
Morm Syndrome
Hyperactivity, Truncal obesity, Retinal dystrophy, Aggressive behavior, Retinal atrophy ORPHA:75858
Immunodeficiency 8
Hyperactivity OMIM:615401
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity, Irritability OMIM:616657
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Anxiety, Self-injurious behavior, Aggressive behavior OMIM:619031
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Impulsivity, Aggressive behavior OMIM:604317
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Ataxia, Impulsivity, Hyperactivity OMIM:617113
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Self-injurious behavior OMIM:619970
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Chromosome 3Q29 Deletion Syndrome
Failure to thrive, Hyperactivity, Small for gestational age, Anxiety, Gait ataxia, Aggressive beh... OMIM:609425
Glycine Encephalopathy
Hyperactivity, Impulsivity, Aggressive behavior, Irritability OMIM:605899
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior OMIM:309548
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Ataxia, Hyperactivity, Aggressive behavior OMIM:300983
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Broad-based gait, Hyperactivity, Aggressive behavior OMIM:619470
Coffin-Siris Syndrome 8
Failure to thrive, Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:618362
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior ORPHA:100973
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Abnormal fear/anxiety-related behavior, Hyperactivity, Shuffling gait, Aggressi... ORPHA:3077
Phenylketonuria
Hyperactivity, Self-mutilation, Depression, Anxiety, Attention deficit hyperactivity disorder, Ag... OMIM:261600
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Hyperactivity OMIM:300928
Hyperprolinemia, Type I
Ataxia, Hyperactivity, Aggressive behavior OMIM:239500
Juvenile Huntington Disease
Broad-based gait, Ataxia, Progressive cerebellar ataxia, Hyperactivity, Depression, Gait ataxia, ... ORPHA:248111
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Ck Syndrome
Slender build, Hyperactivity, Aggressive behavior, Abnormal cortical bone morphology, Irritability OMIM:300831
Lennox-Gastaut Syndrome
Personality disorder, Hyperactivity, Aggressive behavior, Falls ORPHA:2382
Landau-Kleffner Syndrome
Impulsivity, Hyperactivity, Depression, Anxiety, Gait ataxia, Attention deficit hyperactivity dis... ORPHA:98818
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Inability to walk, Hyperactivity, Dysmetria OMIM:618090
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity ORPHA:521258
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Failure to thrive, Hyperactivity OMIM:274270
Intellectual Developmental Disorder, Autosomal Dominant 67
Attention deficit hyperactivity disorder, Hyperactivity, Bipolar affective disorder OMIM:619927
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Self-injurious behavior, Hyperactivity, Athetosis, Aggressive behavior ORPHA:382
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Happy demeanor, Ataxia, Hyperactivity, Obesity, Inappropriate laughter ORPHA:411515
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Hyperactivity, Inappropriate behavior, Self-biting, Nail-biting, Attenti... OMIM:619827
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Aggressive behavior, Obesity OMIM:301013
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Self-injurious behavior, Depression, Anxiety, Aggressive behavior OMIM:619467
Succinic Semialdehyde Dehydrogenase Deficiency
Ataxia, Self-injurious behavior, Hyperactivity, Anxiety, Aggressive behavior OMIM:271980
Chromosome Xq25 Duplication Syndrome
Anxiety, Hyperactivity OMIM:300979
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Broad-based gait, Happy demeanor, Failure to thrive, Hyperactivity, Unsteady gait OMIM:617865
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Progressive cerebellar ataxia, Hyperactivity, Depression, Anxiety, Aggre... ORPHA:485350
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Choreoathetosis, Hyperactivity, Aggressive behavior OMIM:612716
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk, Self-injurious behavior, Paroxysmal bursts of laughter OMIM:618718
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Anxiety, Impulsivity, Aggressive behavior ORPHA:101039
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Optic atrophy, Failure to thrive, Hyperactivity, Aggressive behavior ORPHA:369939
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Self-mutilation OMIM:615516
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior OMIM:615541
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Cln5 Disease
Ataxia, Inability to walk, Hyperactivity, Dysmetria, Dysdiadochokinesis, Anxiety, Truncal ataxia,... ORPHA:228360
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Broad-based gait, Hyperactivity, Aggressive behavior ORPHA:457260
Intellectual Developmental Disorder, Autosomal Dominant 7
Happy demeanor, Ataxia, Hyperactivity, Small for gestational age, Gait disturbance, Inappropriate... OMIM:614104
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Hyperactivity, Impulsivity, Gait ataxia, Aggressive behavior ORPHA:500180
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Broad-based gait, Decreased body weight, Hyperactivity, Aggressive behavior OMIM:300958
Graves Disease, Susceptibility To, 1
Weight loss, Hyperactivity, Irritability OMIM:275000
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Impulsivity OMIM:300143
Gomez-Lopez-Hernandez Syndrome
Ataxia, Self-injurious behavior, Hyperactivity, Craniosynostosis, Depression, Bipolar affective d... OMIM:601853
Late Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Inability to walk, Hyperactivity, Retinal degeneration, Anxiety, Gait disturbance, Aggres... ORPHA:168491
Intellectual Developmental Disorder, Autosomal Dominant 45
Slender build, Anxiety, Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Aggressive behavior, Dense calvaria OMIM:252920
Adenylosuccinase Deficiency
Happy demeanor, Inability to walk, Hyperactivity, Self-mutilation, Gait ataxia, Aggressive behavi... OMIM:103050
X-Linked Adrenoleukodystrophy
Inappropriate sexual behavior, Hyperactivity, Gait disturbance, Disinhibition, Aggressive behavio... ORPHA:43
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Hyperactivity, Depression, Anxiety, Attention deficit hyperactivity diso... ORPHA:449291
X-Linked Creatine Transporter Deficiency
Ataxia, Hyperactivity, Self-mutilation, Cachexia, Athetosis ORPHA:52503
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Self-biting OMIM:618314
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Cntnap2-Related Developmental And Epileptic Encephalopathy
Ataxia, Hyperactivity, Self-mutilation, Low frustration tolerance, Aggressive behavior, Obesity, ... ORPHA:163681
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Impulsivity, Dysmetria, Dysdiadochokinesis, Optic atrophy, Gait ataxia, Emotional ... OMIM:610217
Pitt-Hopkins-Like Syndrome 1
Ataxia, Hyperactivity, Aggressive behavior OMIM:610042
47,Xyy Syndrome
Attention deficit hyperactivity disorder, Hyperactivity, Congenital stationary night blindness, I... ORPHA:8
Joubert Syndrome 1
Ataxia, Hyperactivity, Self-mutilation, Retinal dystrophy, Optic disc coloboma, Optic disc pallor... OMIM:213300
Microcephaly 29, Primary, Autosomal Recessive
Ataxia, Hyperactivity, Emotional lability OMIM:620047
Neurodegeneration With Brain Iron Accumulation 1
Ataxia, Akinesia, Hyperactivity, Retinal degeneration, Depression, Pigmentary retinopathy, Optic ... OMIM:234200
Hyperthyroidism, Nonautoimmune
Hyperactivity, Small for gestational age OMIM:609152
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Weight loss, Hyperactivity, Small for gestational age ORPHA:424
Familial Gestational Hyperthyroidism
Weight loss, Hyperactivity ORPHA:99819
Histidinemia
Hyperactivity ORPHA:2157

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.

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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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