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Gene: Hcfc1 MGI:105942

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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

Order Alleles

IMPC Data Collections

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

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.

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
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Homocystinuria, Microcephaly OMIM:309541

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... ORPHA:42665
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
Albinism-Deafness Syndrome
Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism OMIM:300700
Ermine Phenotype
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo OMIM:227010
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:606952
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... OMIM:619947
Albinism-Deafness Syndrome
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... ORPHA:998
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Blue irides, Albinism OMIM:606574
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Melanocytic nevus, Anemia, Abnormal cardiac septum morphology, Thrombocytopenia ORPHA:3319
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Waardenburg Syndrome, Type 4B
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613265
Piebald Trait
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... OMIM:172800
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... OMIM:193510
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:607624
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... ORPHA:895
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... ORPHA:79433
Waardenburg Syndrome, Type 3
Mandibular prognathia, Scapular winging, Partial albinism, Camptodactyly of finger, Prominent nas... OMIM:148820
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... OMIM:203200
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... ORPHA:79414
Sponastrime Dysplasia
Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os... ORPHA:93357
Piebaldism
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... ORPHA:2884
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... ORPHA:2885
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:256710
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Micrognathia, Microcephaly, Microcytic anemia, Short toe, Flexion contracture, Wide nasal bridge,... ORPHA:98791
Microcephaly-Albinism-Digital Anomalies Syndrome
Iris hypopigmentation, Aplasia/Hypoplasia of the distal phalanges of the toes, Micrognathia, Micr... ORPHA:2513
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Micrognathia, Short thumb,... OMIM:612561
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Increased circulating lactate dehydrogenase concentration, Mic... ORPHA:232
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Maternal Uniparental Disomy Of Chromosome X
Depressed nasal bridge, Camptodactyly of finger, Rocker bottom foot, Microcephaly, Flexion contra... ORPHA:261519
Odontotrichoungual-Digital-Palmar Syndrome
Mandibular prognathia, Hypopigmentation of the skin, Brachydactyly, Natal tooth, Single transvers... OMIM:601957
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Microcephaly, Micrognathia, Bulbous nose, Wide nasal bridge, Sparse hair, Intrauterine growth ret... ORPHA:261304
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Acrodysostosis 2 With Or Without Hormone Resistance
Mandibular prognathia, Short metacarpal, Anteverted nares, Depressed nasal bridge, Short metatars... OMIM:614613
Waardenburg Syndrome Type 1
Mandibular prognathia, Hypopigmentation of hair, White eyelashes, White eyebrow, Spina bifida, Un... ORPHA:894
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... ORPHA:897
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Obesity And Hypopigmentation
Red hair OMIM:620195
Chondrodysplasia Punctata, Autosomal Dominant
Hip contracture, Hypoplasia of the nasal bone, Knee flexion contracture, Epiphyseal stippling, Co... OMIM:118650
Cyanosis, Transient Neonatal
Reticulocytosis, Jaundice, Methemoglobinemia, Anemia OMIM:613977
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... ORPHA:79435
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Al-Raqad Syndrome
Sandal gap, Microcephaly, Atrial septal defect, Short nose, Hypopigmentation of the skin, Brachyd... OMIM:616459
Dominant Beta-Thalassemia
Bowing of the long bones, Extramedullary hematopoiesis, Depressed nasal bridge, Decreased mean co... ORPHA:231226
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Metaphyseal dysplasia, Pancytopenia, Congenital hip dislocation, Aplastic... OMIM:617052
Diamond-Blackfan Anemia
Pure red cell aplasia, Micrognathia, Low anterior hairline, Reticulocytopenia, Leukopenia, Tripha... ORPHA:124
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Macrocytic anemia, Sparse eyelashes, Micrognathia, Persistence of hemoglobin F, Increased mean co... OMIM:300946
Beta-Thalassemia Major
Bowing of the long bones, Extramedullary hematopoiesis, Depressed nasal bridge, Decreased mean co... ORPHA:231214
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Anemia, Hypertrophic cardiomyopa... ORPHA:848
Naegeli-Franceschetti-Jadassohn Syndrome
Subungual hyperkeratosis, Flexion contracture of finger, Decreased number of sweat glands, Swelli... ORPHA:69087
Isolated Arrhinia
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... ORPHA:1134
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Persistence of primary teeth, Recurrent upper respiratory tract infect... OMIM:619769
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Sparse eyelashes, Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia of the maxilla, ... ORPHA:306542
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Mandibular prognathia, Anteverted nares, Depressed nasal bridge, Ventricular septal defect, Coxa ... OMIM:301040
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Anteverted nares, Microcephaly, Micrognathia, Persistence of hemoglobin F, Prominent nasal tip, R... OMIM:617101
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Hypopigmentation of ... OMIM:214500
Rothmund-Thomson Syndrome Type 2
Aplastic anemia, Long nose, Patellar hypoplasia, Neutropenia, Sparse hair, Short phalanx of finge... ORPHA:221016
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Myocardial necrosis, Pancytopenia, Elevated hepatic transaminase, Metaphy... OMIM:260400
Hereditary Methemoglobinemia
Methemoglobinemia, Abnormality of the nail, Microcephaly ORPHA:621
Diamond-Blackfan Anemia 1
Micrognathia, Depressed nasal ridge, Reticulocytopenia, Triphalangeal thumb, Neutropenia, Atrial ... OMIM:105650
Squalene Synthase Deficiency
Depressed nasal bridge, Bicuspid aortic valve, Micrognathia, Elbow flexion contracture, 2-3 toe s... OMIM:618156
Prader-Willi Syndrome Due To Translocation
Micrognathia, Prominent nose, Clinodactyly, Clinodactyly of the 5th finger, Hypopigmentation of t... ORPHA:177907
Oculocutaneous Albinism Type 2
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... ORPHA:79432
Rothmund-Thomson Syndrome
Aplastic anemia, Neutropenia, Sparse hair, Hypopigmentation of the skin, Abnormality of the nail,... ORPHA:2909
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia, Epistaxis ORPHA:90042
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... ORPHA:79434
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Usher Syndrome, Type Ig
Hypoplasia of the nasal bone OMIM:606943
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anteverted nares, Abnormal hemoglobin, Microcephaly, Flexion contracture, Depressed nasal ridge, ... ORPHA:847
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Rothmund-Thomson Syndrome Type 1
Aplastic anemia, Patellar hypoplasia, Neutropenia, Sparse hair, Short phalanx of finger, Hypopigm... ORPHA:221008
Hb Bart'S Hydrops Fetalis
Splenomegaly, Pericarditis, Abnormal hemoglobin, Anemia ORPHA:163596
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Recurrent sinusitis, Neutropenia,... OMIM:618849
Bloom Syndrome
Syndactyly, Elevated hemoglobin A1c, Prominent nose, Microcephaly, Recurrent upper respiratory tr... OMIM:210900
Vici Syndrome
Atrial septal defect, Hypopigmentation of hair, Wide nose, Depressed nasal bridge, Left ventricul... OMIM:242840
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Increased circulating lactate dehydrogenase... ORPHA:3202
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Underdeveloped nasal alae, Prolonged neonatal jaundice, Intrauterine growth retardation, HbH hemo... ORPHA:423479
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia, Microcephaly OMIM:250800
Syndromic Diarrhea
Lymphopenia, Hypopigmentation of hair, Brittle hair, Thrombocytosis, Bicuspid aortic valve, Incre... ORPHA:84064
Degcags Syndrome
Micrognathia, Prominent nose, Synophrys, Low anterior hairline, Abnormality of skin pigmentation,... OMIM:619488
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... ORPHA:231222
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... OMIM:203100
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:263400
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Porphyria, Congenital Erythropoietic
Absent eyebrow, Alopecia, Erythrodontia, Hemolytic anemia, Thrombocytopenia, Splenomegaly, Loss o... OMIM:263700
Focal Dermal Hypoplasia
Ridged nail, Linear hyperpigmentation, Congenital hip dislocation, Cleft ala nasi, Brittle hair, ... OMIM:305600
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
Acquired Methemoglobinemia
Acidosis, Methemoglobinemia ORPHA:464453
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Frontofacionasal Dysplasia
Underdeveloped nasal alae, Bifid nose, Midline defect of the nose, Cranium bifidum occultum, Abse... OMIM:229400
Lead Poisoning
Delayed eruption of teeth, Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphology ORPHA:330015
Hartsfield Syndrome
Syndactyly, Wide nose, Microcephaly, Ectrodactyly, Agenesis of corpus callosum, Hypoplasia of the... OMIM:615465
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, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Leukemia ORPHA:99867
Isolated Exencephaly
Agenesis of corpus callosum, Depressed nasal bridge, Hypoplasia of the frontal bone ORPHA:563612
Congenital Ptosis
Congenital facial diplegia, Increased muscle lipid content, Piebaldism, Congenital fibrosis of ex... ORPHA:91411
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Gaisböck Syndrome
Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased hematocrit, Elevated... ORPHA:90041
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Homocystinuria, Microcephaly 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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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
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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