Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
host cell factor C1
Synonyms:
VP16 accessory protein,  HCF-1,  HCF1

IMPC Data Collections

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

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.

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 Hcfc1 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 Hcfc1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
X-Linked Non-Syndromic Intellectual Disability
Shortening of all distal phalanges of the fingers, Delayed eruption of teeth, 2-3 toe syndactyly,... ORPHA:777
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Microcephaly, Homocystinuria OMIM:309541

The table below shows human diseases predicted to be associated to Hcfc1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Melanocytic nevus, Thrombocytopenia, Abnormal cardiac septum morphology ORPHA:3319
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Waardenburg Syndrome, Type 3
Premature graying of hair, Clinodactyly, Carpal synostosis, Brachydactyly, Heterochromia iridis, ... OMIM:148820
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Microcephaly-Albinism-Digital Anomalies Syndrome
Hypopigmentation of the skin, Aplasia/Hypoplasia of the distal phalanges of the toes, Micrognathi... ORPHA:2513
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, Flexion contracture, Aplasia/Hypoplasia of the eyebrow, Wide nasal bridge, Mic... ORPHA:98791
Hidrotic Ectodermal Dysplasia
Absent pubic hair, Anonychia, Fine hair, Absent axillary hair, Hyperpigmentation of the skin, Alo... ORPHA:189
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia, HbH hemoglobin OMIM:613978
Diamond-Blackfan Anemia 6
Tetralogy of Fallot, Atrial septal defect, Triphalangeal thumb, Ventricular hypertrophy, Short th... OMIM:612561
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Increased circulating lactate dehydrogena... ORPHA:232
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Odontotrichoungual-Digital-Palmar Syndrome
Brachydactyly, Single transverse palmar crease, Prominent interdigital folds, Hypopigmentation of... OMIM:601957
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hemoglobin E Disease
Intrauterine growth retardation, Splenomegaly, Increased red blood cell count, Abnormal hemoglobi... ORPHA:2133
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Intrauterine growth retardation, Hypopigmentation of the skin, Aplasia/Hypoplasia of the eyebrow,... ORPHA:261304
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Piebaldism
White eyebrow, Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin patches, White ... ORPHA:2884
Waardenburg Syndrome Type 1
White eyebrow, Premature graying of hair, Hypopigmentation of hair, Heterochromia iridis, Hypopig... ORPHA:894
Cyanosis, Transient Neonatal
Reticulocytosis, Anemia, Methemoglobinemia, Jaundice OMIM:613977
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Clinodactyly, Supernumerary nipple, Wide nasal bridge, HbH hemoglobin, Microcephaly, Macroglossia... OMIM:141750
Alpha-Thalassemia
Microcytic anemia, Splenomegaly, Jaundice, Anemia, Hemolytic anemia, Abnormal hemoglobin, Hypersp... ORPHA:846
Dominant Beta-Thalassemia
Bowing of the long bones, Dilated cardiomyopathy, Hepatosplenomegaly, Decreased mean corpuscular ... ORPHA:231226
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Blackfan-Diamond Anemia
Short thumb, Micrognathia, Microcephaly, Ventricular septal defect, Persistence of hemoglobin F, ... ORPHA:124
Beta-Thalassemia Major
Bowing of the long bones, Dilated cardiomyopathy, Hepatosplenomegaly, Decreased mean corpuscular ... ORPHA:231214
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Beta-Thalassemia
Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Anemia, Hepatitis, Abnormal hemoglo... ORPHA:848
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... OMIM:263300
Naegeli-Franceschetti-Jadassohn Syndrome
Generalized reticulate brown pigmentation, Enamel hypoplasia, Hypopigmentation of the skin, Cario... ORPHA:69087
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Cerebral atrophy, Clinodactyly, Coxa valga, Tapered finger, HbH hemoglobin, Microcephaly, Talipes... OMIM:301040
Squalene Synthase Deficiency
Intrauterine growth retardation, 2-3 toe syndactyly, Elbow flexion contracture, Micrognathia, Kne... OMIM:618156
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Widow's peak, Brachydactyly, Tetralogy of Fallot, Agenesis of corpus callosum, Cranium bifidum oc... ORPHA:306542
Shwachman-Diamond Syndrome 1
Pancytopenia, Metaphyseal sclerosis, Metaphyseal widening, Acute myeloid leukemia, Metaphyseal ch... OMIM:260400
Vici Syndrome
Dilated cardiomyopathy, Hypopigmentation of hair, Left ventricular hypertrophy, Agenesis of corpu... OMIM:242840
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Atrial septal defect, Ventricular septal defect, Persistence of hemoglobin F, Macrocephaly, Umbil... OMIM:619769
Erythrocytosis, Familial, 1
Splenomegaly, Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:133100
Rothmund-Thomson Syndrome Type 2
Long nose, Genu varum, Finger symphalangism, Metaphyseal sclerosis, Aplasia/Hypoplasia of the eye... ORPHA:221016
Chediak-Higashi Syndrome
Hypopigmentation of hair, Foot dorsiflexor weakness, Leukopenia, Giant neutrophil granules, Hemop... OMIM:214500
Rothmund-Thomson Syndrome
Abnormality of the nail, Nail dysplasia, Short thumb, Anemia, Aplastic anemia, Aplasia/Hypoplasia... ORPHA:2909
Hereditary Methemoglobinemia
Abnormality of the nail, Temporal cortical atrophy, Small basal ganglia, Microcephaly, Methemoglo... ORPHA:621
Erythrocytosis, Familial, 4
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:611783
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Microcephaly, Methemoglobinemia, Polycythemia OMIM:250800
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Splenomegaly, Pericarditis ORPHA:163596
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Albinism-Deafness Syndrome
Heterochromia iridis, Hypopigmented skin patches, Partial albinism, Irregular hyperpigmentation, ... ORPHA:998
Rothmund-Thomson Syndrome Type 1
Genu varum, Finger symphalangism, Metaphyseal sclerosis, Aplasia/Hypoplasia of the eyebrow, Nail ... ORPHA:221008
Erythrocytosis, Familial, 6
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617980
Erythrocytosis, Familial, 5
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617907
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... OMIM:610629
Piebald Trait
Heterochromia iridis, Absent pigmentation of the ventral chest, White forelock, Partial albinism,... OMIM:172800
Albinism-Deafness Syndrome
Patchy hypo- and hyperpigmentation, Albinism, Piebaldism, Partial albinism OMIM:300700
Dehydrated Hereditary Stomatocytosis
Schistocytosis, Reticulocytosis, Macrocytic anemia, Increased circulating lactate dehydrogenase c... ORPHA:3202
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Brachydactyly, Flexion contracture, Agenesis of corpus callosum, Clinodactyly of the 5th finger, ... ORPHA:847
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia ORPHA:90042
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:263400
Oculocutaneous Albinism Type 3
White eyebrow, Hypopigmentation of the skin, Blue irides, White eyelashes, Freckling, Iris hypopi... ORPHA:79433
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Beta-Thalassemia Intermedia
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Decreased liver function, Jaundice, Increased HbA... ORPHA:231222
Porphyria, Congenital Erythropoietic
Erythrodontia, Hypopigmentation of the skin, Splenomegaly, Alopecia, Loss of eyelashes, Absent ey... OMIM:263700
Sponastrime Dysplasia
Broad palm, Mandibular prognathia, Metaphyseal widening, Genu valgum, Hip dislocation, Short nose... ORPHA:93357
Bone Marrow Failure Syndrome 6
Neutropenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
Oculocutaneous Albinism
White eyebrow, Hypopigmentation of hair, Hypopigmentation of the skin, White eyelashes, Ocular al... ORPHA:55
Acquired Methemoglobinemia
Methemoglobinemia, Acidosis ORPHA:464453
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio, Nail dystrophy OMIM:609057
Hartsfield Syndrome
Gonadotropin deficiency, Agenesis of corpus callosum, Microcephaly, Ectrodactyly, Hypoplasia of t... OMIM:615465
Duodenal Neuroendocrine Tumor
Hepatic failure, Increased hematocrit, Intrahepatic cholestasis with episodic jaundice, Tricuspid... ORPHA:100076
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Thymoma
Myositis, Leukemia, Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia ORPHA:99867
Isolated Exencephaly
Posterior pituitary agenesis, Hypoplasia of the frontal bone, Agenesis of corpus callosum, Anteri... ORPHA:563612
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Frontofacionasal Dysplasia
Hypoplasia of the frontal bone, Absent inner eyelashes, Short nose, Cranium bifidum occultum OMIM:229400
Lead Poisoning
Abnormal T cell morphology, Anemia, Imbalanced hemoglobin synthesis, Delayed eruption of teeth ORPHA:330015
Pallister-Killian Syndrome
Sparse anterior scalp hair, Clinodactyly of the 5th finger, Broad palm, Micrognathia, Macroglossi... OMIM:601803
Congenital Ptosis
Long eyelashes, Congenital facial diplegia, Increased muscle lipid content, Cafe-au-lait spot, Pi... ORPHA:91411
Gaisböck Syndrome
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Elevated pla... ORPHA:90041
X-Linked Non-Syndromic Intellectual Disability
Shortening of all distal phalanges of the fingers, Delayed eruption of teeth, 2-3 toe syndactyly,... ORPHA:777
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Microcephaly, Homocystinuria OMIM:309541

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 Hcfc1

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 Hcfc1.

No publications found that use IMPC mice or data for Hcfc1.

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MGI Allele Allele Type Produced
Hcfc1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Hcfc1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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