Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

CDKN1A interacting zinc finger protein 1
2900056O04Rik,  0610038H21Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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.

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.

Phenotype associated images not available

Human diseases caused by Ciz1 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.

The table below shows human diseases associated to Ciz1 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Adult-Onset Cervical Dystonia, Dyt23 Type
Difficulty walking, Unsteady gait ORPHA:420492

The table below shows human diseases predicted to be associated to Ciz1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Dysphagia, Gait ataxia, Hyperactivity, Impulsivity OMIM:620448
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Lymphocytosis, Neutropenia, Monocytosis, Leukemia, Autoimmune thrombo... OMIM:614470
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity, Irritability OMIM:616657
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Hartnup Disorder
Emotional lability, Attention deficit hyperactivity disorder, Hyperactivity, Episodic ataxia OMIM:234500
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Acute myeloid leukemia, Refractory anemia, Monocytosis OMIM:616871
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis OMIM:619281
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait ataxia, Dysmetria, Gait disturbance, Hyperactivity, Delayed early-childho... OMIM:618090
Adult Idiopathic Neutropenia
Monocytopenia, Lymphopenia, Neutropenia, Monocytosis ORPHA:2688
Immunodeficiency 15B
Reduced natural killer cell count, Monocytosis OMIM:615592
Juvenile Huntington Disease
Broad-based gait, Depression, Chorea, Gait ataxia, Irritability, Hyperactivity, Ataxia, Bradykine... ORPHA:248111
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Glycine Encephalopathy 1
Irritability, Aggressive behavior, Lethargy, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Impaired vibration sensation in the lower limb... OMIM:159550
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity, Ataxia OMIM:617113
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Hyperprolinemia, Type I
Aggressive behavior, Motor stereotypy, Hyperactivity, Ataxia OMIM:239500
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Aggressive behavior, Hyperactivity, Compulsive behaviors, Unsteady gait OMIM:301107
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia OMIM:617585
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu... ORPHA:486
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Aggressive behavior, Hyperactivity, Ataxia OMIM:620270
Folate Malabsorption, Hereditary
Leukopenia, Folate-responsive megaloblastic anemia, Irritability, Neutropenia, Ataxia, Thrombocyt... OMIM:229050
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Thrombocytopenia, Monocytosis OMIM:619644
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Chorea, Aggressive behavior, Hyperactivity, Ataxia, Athetosis ORPHA:382
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Aggressive behavior, Broad-based gait, Motor stereotypy, Hyperactivity OMIM:619470
Lennox-Gastaut Syndrome
Aggressive behavior, Falls, Hyperactivity, Irritability ORPHA:2382
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Landau-Kleffner Syndrome
Depression, Gait ataxia, Emotional lability, Aggressive behavior, Attention deficit hyperactivity... ORPHA:98818
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Shuffling gait, Broad-based gait, Abnormal fear-induced behavior, Irritability, Aggressive behavi... ORPHA:3077
Specific Granule Deficiency 1
Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,... OMIM:245480
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities
Chorea, Gait ataxia, Self-mutilation, Hyperactivity, Paroxysmal bursts of laughter, Impulsivity, ... OMIM:620445
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Impaired pain sensation, Inability to walk, Chorea, Gait ataxia, Aggressive behavior, Hyperactivi... ORPHA:500180
Chromosome 3Q29 Deletion Syndrome
Motor stereotypy, Aggressive behavior, Gait ataxia, Hyperactivity OMIM:609425
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Inability to walk, Bruxism, Motor stereotypy, Hyperactivity, Paroxysmal ... OMIM:618718
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Inappropriate behavior, Aggressive behavior, Attention deficit hyperacti... OMIM:619827
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Inappropriate laughter, Polyphagia, Hyperactivity, Ataxia ORPHA:411515
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Ataxia OMIM:615924
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia, Ataxia OMIM:616949
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Depression, Chorea, Aggressive behavior, Hyperactivity, Compulsive behav... ORPHA:485350
Intellectual Developmental Disorder, Autosomal Recessive 38
Recurrent hand flapping, Self-mutilation, Aggressive behavior, Hyperactivity, Unsteady gait OMIM:615516
Immunodeficiency 32B
Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocytopenia, Neutrophil... OMIM:226990
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Self-injurious behavior, Inability to walk, Aggressive behavior, Hyperactivity, Choreoathetosis OMIM:620023
Immunodeficiency 11A
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... OMIM:619802
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Abnormal soci... ORPHA:101039
Depression, Self-mutilation, Irritability, Aggressive behavior, Attention deficit hyperactivity d... OMIM:261600
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Pitt-Hopkins-Like Syndrome 1
Reduced social reciprocity, Aggressive behavior, Attention deficit hyperactivity disorder, Hypera... OMIM:610042
Intellectual Developmental Disorder, Autosomal Dominant 7
Inappropriate laughter, Stereotypical hand wringing, Gait disturbance, Hyperactivity, Ataxia, Mot... OMIM:614104
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Neutrophilia, Leukocytosis, Autoimmune hemolytic anemia, Splenomegaly, Monocytosis, Autoimmune th... OMIM:620565
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Erythroid hypoplasia, Hypoplasia of th... OMIM:612541
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Pancytopen... OMIM:618986
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Polyphagia, Paroxysmal bursts of laughter, Hyperactivity, Ataxia, Motor ... ORPHA:228402
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Hyperactivity, Ataxia, Motor stereotypy, Abnormal social behavior ORPHA:530983
Neurodegeneration With Brain Iron Accumulation 2B
Chorea, Gait ataxia, Emotional lability, Dysmetria, Hyperactivity, Bradykinesia, Dysphagia, Dysdi... OMIM:610217
Congenital Disorder Of Glycosylation, Type Iic
Compulsive behaviors, Reduction of neutrophil motility, Neutrophilia OMIM:266265
Purine Nucleoside Phosphorylase Deficiency
Lymphopenia, Abnormal T cell morphology, Autoimmune hemolytic anemia, Hyperactivity, Ataxia, Decr... ORPHA:760
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Broad-based gait, Pica, Stereotypical body rocking, Tongue thrusting, Hyperactivity, Ataxia, Tics... OMIM:617865
Transcobalamin Ii Deficiency
Pancytopenia, Macrocytic anemia, Irritability, Erythroid hypoplasia, Lethargy, Reticulocytopenia,... OMIM:275350
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Inappropriate laughter, Gait imbalance, Abnormal eating behavior, Recurrent han... ORPHA:98794
X-Linked Adrenoleukodystrophy
Somatic sensory dysfunction, Disinhibition, Aggressive behavior, Attention deficit hyperactivity ... ORPHA:43
Adenylosuccinase Deficiency
Inability to walk, Inappropriate laughter, Gait ataxia, Self-mutilation, Aggressive behavior, Hyp... OMIM:103050
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Depression, Recurrent hand flapping, Reduced s... ORPHA:449291
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal temper tantrums, Low frustration tolerance, Self-mutilation, Stereotypical hand wringing... ORPHA:163681
X-Linked Creatine Transporter Deficiency
Chorea, Self-mutilation, Hyperactivity, Ataxia, Athetosis ORPHA:52503
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Neurodegeneration With Brain Iron Accumulation 1
Phonic tics, Depression, Akinesia, Acanthocytosis, Obsessive-compulsive trait, Gait disturbance, ... OMIM:234200
Staphylococcal Necrotizing Pneumonia
Leukopenia, Leukocytosis, Lethargy, Addictive alcohol use, Neutrophilia ORPHA:36238
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Leukocytosis, Splenomegaly, Thrombocytopenia, Abnormal neutrophil count, Myelopro... ORPHA:3226
Irritability, Hyperactivity, Anorexia, Spastic gait, Reduced erythrocyte arginase activity OMIM:207800
Microcephaly 29, Primary, Autosomal Recessive
Emotional lability, Hyperactivity, Ataxia OMIM:620047
Cryptogenic Organizing Pneumonia
Anorexia, Leukocytosis, Neutrophilia ORPHA:1302
Acanthocytosis, Emotional lability, Hair-pulling, Loss of ambulation, Bradykinesia, Dysphagia, So... ORPHA:2388
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... ORPHA:98849
Herpes Simplex Virus Encephalitis
Addictive alcohol use, Leukocytosis, Neutrophilia ORPHA:1930
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Depression, Aggressive behavior, Hyperactivity, Ataxia, Choreoathetosis OMIM:612716
Hereditary Sensory And Autonomic Neuropathy Type 4
Pain insensitivity, Hyperesthesia, Somatic sensory dysfunction, Painless fractures due to injury,... ORPHA:642
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Anemia, Brain abscess, Liver abscess, Neutrophilia ORPHA:54251
Psoriasis 14, Pustular
Leukocytosis, Neutrophilia OMIM:614204
Acute Generalized Exanthematous Pustulosis
Eosinophilia, Leukocytosis, Neutropenia, Neutrophilia ORPHA:293173
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased proportion of CD4-positive T cells, Leukocytosis, Neutrophilia OMIM:617099
Abnormal neutrophil count ORPHA:723
Adult-Onset Cervical Dystonia, Dyt23 Type
Difficulty walking, Unsteady gait ORPHA:420492


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 Ciz1

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 Ciz1.

No publications found that use IMPC mice or data for Ciz1.

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
Ciz1tm34264(L1L2_Pgk_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ciz1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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