Gene Summary

armadillo repeat gene deleted in velocardiofacial syndrome

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
hyperactivity Arvcftm1e(EUCOMM)Wtsi HOM Early adult 4.27×10-05
abnormal gait Arvcftm1e(EUCOMM)Wtsi HOM Early adult 7.36×10-15
increased circulating alkaline phosphatase level Arvcftm1e(EUCOMM)Wtsi HOM Early adult 8.78×10-05
abnormal lens morphology Arvcftm1e(EUCOMM)Wtsi HOM Early adult 8.02×10-06
cataract Arvcftm1e(EUCOMM)Wtsi HOM Early adult 1.23×10-09
increased monocyte cell number Arvcftm1e(EUCOMM)Wtsi HOM Early adult 6.30×10-08
increased startle reflex Arvcftm1e(EUCOMM)Wtsi HOM Early adult 6.46×10-08
abnormal behavior Arvcftm1e(EUCOMM)Wtsi HOM   Early adult 1.68×10-07
abnormal urination Arvcftm1e(EUCOMM)Wtsi HOM   Early adult 6.16×10-05

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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.


XRay Images Forepaw

14 Images


XRay Images Whole Body Lateral Orientation

13 Images


XRay Images Whole Body Dorso Ventral

14 Images


XRay Images Skull Lateral Orientation

14 Images


XRay Images Skull Dorso Ventral Orientation

14 Images

Human diseases caused by Arvcf 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 Arvcf by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
22Q11.2 Deletion Syndrome
Multiple renal cysts, Posterior embryotoxon, Renal hypoplasia, Cataract, Hypocalcemia, Splenomega... ORPHA:567

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

Disease Similarity of
Matching phenotypes Source
Hyperlysinemia, Type I
Anemia, Hyperactivity, Hyperlysinemia, Ectopia lentis OMIM:238700
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract, Ataxia ORPHA:1397
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Spinocerebellar Ataxia, Autosomal Recessive 24
Gait ataxia, Limb ataxia, Cataract, Spastic gait OMIM:617133
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 18
Cataract OMIM:610019
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Immunodeficiency 8
Hyperactivity, Lymphopenia OMIM:615401
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Acute... OMIM:202700
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Dysequilibrium Syndrome
Cataract, Ataxia, Gait disturbance ORPHA:1766
Aniridia 3
Cataract OMIM:617142
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract, Renal tubular dysfunction ORPHA:1380
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Galactosemia Ii
Hypergalactosemia, Cataract, Galactosuria OMIM:230200
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Neutropenia, Monocytosis, B lymphocytopenia OMIM:613107
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Cataract ORPHA:254704
Spastic Paraparesis-Deafness Syndrome
Cataract, Ataxia, Gait disturbance ORPHA:2815
Spastic Paraparesis And Deafness
Cataract, Tremor OMIM:312910
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia, Hemo... OMIM:614470
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract OMIM:121900
Galactosemia Iv
Hypergalactosemia, Cataract OMIM:618881
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk OMIM:616657
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Nathalie Syndrome
Cataract ORPHA:2663
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Optic Atrophy 3, Autosomal Dominant
Cataract, Tremor OMIM:165300
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Monocytosis, Hemolytic-uremic syndrome, Hemophagocytosis, Nephrotic syndrome,... OMIM:619644
Immunodeficiency 14B, Autosomal Recessive
Leukocytosis, Monocytosis, Thrombocytosis, Neutrophilia, B lymphocytopenia OMIM:619281
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Leukopenia, Refractory anemia, Monocytosis OMIM:616871
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Hyperactivity, Inability to walk, Gait disturbance, Tremor OMIM:618090
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Elevated circulating creatine kinase concentration, Gait disturbance, Cataract, Tip-toe gait OMIM:617404
Cataract OMIM:190330
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Cataract, Hyperbilirubinemia OMIM:618660
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Micropenis, Cataract OMIM:610156
Morm Syndrome
Micropenis, Cataract, Hyperactivity ORPHA:75858
Hyperprolinemia, Type I
Hyperprolinemia, Hyperactivity, Prolinuria, Ataxia, Hydroxyprolinuria, Hyperglycinuria OMIM:239500
Adult Idiopathic Neutropenia
Neutropenia, Monocytosis, Lymphopenia, Monocytopenia ORPHA:2688
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Dysmetria, Intention tremor, Cataract, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Broad-bas... OMIM:224050
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract, Hyperactivity ORPHA:85288
Bardet-Biedl Syndrome 18
Cataract, Renal insufficiency OMIM:615995
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Elevated circulating creatine kinase concentration, Cataract OMIM:609115
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Hyperactivity, Ataxia, Hypertriglyceridemia, Tremor OMIM:615924
Xeroderma Pigmentosum, Complementation Group G
Cataract, Ataxia, Tremor OMIM:278780
Spastic Paraplegia 26, Autosomal Recessive
Spastic gait, Dysmetria, Dystonia, Cataract, Ataxia, Urinary urgency, Tip-toe gait, Difficulty wa... OMIM:609195
Holoprosencephaly, Recurrent Infections, And Monocytosis
Micropenis, Monocytosis OMIM:610680
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Progressive cataract, Iris coloboma OMIM:604219
Autosomal Recessive Spastic Paraplegia Type 69
Cataract, Hand tremor ORPHA:401830
Autosomal Dominant Severe Congenital Neutropenia
Eosinophilia, Monocytosis, Leukemia, Acute myeloid leukemia, Neutropenia, Aplastic anemia, Acute ... ORPHA:486
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Hyperactivity, Cataract, Blue irides, Increased level of hippuric acid in urine, Maternal hyperph... OMIM:261600
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Monocytosis, Hydronephrosis, Splenomegaly, Neutropenia, Anemia, Lymphopenia, Hypoplas... OMIM:612541
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Increased urinary disaccharide excretion, Tortuosity of conjunctival vessels OMIM:248510
Cataract 47
Glycosuria, Microcornea, Cataract OMIM:612018
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Tremor OMIM:619470
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Cataract, Abnormal circulating creatine kinase concentration, Truncal ataxia, Waddling gait, Diff... ORPHA:369840
Immunodeficiency 21
Neutropenia, Abnormal natural killer cell morphology, Myeloid leukemia, Aplastic anemia, Monocyto... OMIM:614172
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Cataract, Hepatosplenomegaly OMIM:273680
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Baralle-Macken Syndrome
Urinary incontinence, Cataract, Inability to walk, Dystonia OMIM:619255
Pellagra-Like Syndrome
Cataract, Ataxia OMIM:260650
Anterior Segment Dysgenesis 8
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, I... OMIM:617319
Exfoliation Syndrome
Pseudoexfoliation, Abnormality of the lens, Cataract, Phakodonesis, Lens subluxation, Iris hypope... OMIM:177650
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Transient hyperphenylalaninemia, Hyperactivity, Ataxia, Tremor OMIM:612716
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia, Tremor OMIM:300983
Spastic Paraplegia 5A, Autosomal Recessive
Limb dysmetria, Urinary incontinence, Cataract, Spastic gait OMIM:270800
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Aminoaciduria, Cataract ORPHA:2278
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
3-Methylglutaconic Aciduria, Type Viii
Dystonia, Cataract, 3-Methylglutaconic aciduria, Neutropenia, Tremor OMIM:617248
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Cataract, Developmental cataract, Decreased circulating ceruloplasmin concentration OMIM:614482
Juvenile Huntington Disease
Dystonia, Hyperactivity, Ataxia, Progressive cerebellar ataxia, Gait ataxia, Broad-based gait ORPHA:248111
Spastic Paraplegia 46, Autosomal Recessive
Spastic gait, Cataract, Upper limb dysmetria, Head tremor, Limb dysmetria, Urinary incontinence OMIM:614409
Senior-Loken Syndrome
Stage 5 chronic kidney disease, Cataract, Chronic kidney disease, Ataxia, Nephronophthisis ORPHA:3156
Autosomal Recessive Spastic Paraplegia Type 46
Cataract, Urinary incontinence, Head tremor, Ataxia, Truncal ataxia, Difficulty walking, Broad-ba... ORPHA:320391
Spastic Paraplegia 9B, Autosomal Recessive
Cataract, Urinary retention, Tremor, Gait disturbance OMIM:616586
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Dysmetria, Intention tremor, Cataract, Progressive cerebellar ataxia, Truncal ataxia, Tortuosity ... ORPHA:284289
Cochleosaccular Degeneration-Cataract Syndrome
Cataract, Ataxia ORPHA:3233
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Elevated circulating creatine kinase concentration, Cataract OMIM:613154
Hypergalactosemia, Action tremor, Dystonia, Cataract, Renal insufficiency, Ataxia, Increased leve... ORPHA:352
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Band keratopathy, Hypokalemia, Cataract, Hyperamylasemia, Impaired renal tubular reabsorption of ... OMIM:604278
Peroxisome Biogenesis Disorder 9B
Elevated levels of phytanic acid, Cataract, Ataxia OMIM:614879
3-Methylglutaconic Aciduria Type 4
Cataract, 3-Methylglutaconic aciduria, Thrombocytopenia, Iris hypopigmentation ORPHA:67048
Coats Disease
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris ORPHA:190
Galactosemia I
Hypergalactosemia, Cataract, Aminoaciduria, Increased level of galactitol in plasma, Hemolytic an... OMIM:230400
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane ORPHA:1067
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Cataract, Hypoalbuminemia, Broad-based gait OMIM:618805
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Hematuria, Posterior embryotoxon, Cataract, Corneal opacity, Iris coloboma ORPHA:1473
X-Linked Severe Congenital Neutropenia
Neutropenia, Monocytopenia ORPHA:86788
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Cataract, Hematuria OMIM:120433
Glycine Encephalopathy
Hyperglycinemia, Hyperactivity, Hyperglycinuria OMIM:605899
Autosomal Recessive Spastic Paraplegia Type 26
Cataract, Dystonia, Gait disturbance ORPHA:101006
Usher Syndrome Type 3
Cataract, Astigmatism, Ataxia, Iris hypopigmentation ORPHA:231183
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Cataract, Inability to walk, Splenomegaly, Ataxia, Hemolytic anemia OMIM:608885
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Iris hypopigmentation, Ataxia, Broad-based gait ORPHA:411515
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Classic Galactosemia
Action tremor, Dystonia, Cataract, Ataxia, Gait disturbance, Abnormal erythrocyte enzyme level, P... ORPHA:79239
Myopathy With Extrapyramidal Signs
Hyperlysinemia, Leukocytosis, Dystonia, Hyperactivity, Splenomegaly, Ataxia, Hypervalinemia, Elev... OMIM:615673
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Shuffling gait, Hyperactivity, Broad-based gait, Tremor ORPHA:3077
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Blue irides, Unsteady gait OMIM:615516
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Hemochromatosis, Type 4
Anemia, Cataract, Increased circulating ferritin concentration, Elevated transferrin saturation OMIM:606069
Galactose Mutarotase Deficiency
Hypergalactosemia, Cataract ORPHA:570422
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Hypospadias, Aplasia/Hypoplasia of the lens, Hypoplasia of penis ORPHA:1381
Autosomal Dominant Keratitis
Microcornea, Cataract, Aniridia, Abnormality of the corneal limbus, Hypoplastic iris stroma, Kera... ORPHA:2334
Anterior Segment Dysgenesis 7
Sclerocornea, Microcornea, Cataract, Ocular anterior segment dysgenesis, Buphthalmos OMIM:269400
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk, Tremor OMIM:618718
Lennox-Gastaut Syndrome
Hyperactivity, Falls ORPHA:2382
Cln5 Disease
Dysmetria, Hyperactivity, Inability to walk, Ataxia, Unsteady gait, Dysdiadochokinesis, Truncal a... ORPHA:228360
Cataract 15, Multiple Types
Developmental cataract, Cataract, Cortical cataract, Nuclear cataract, Lamellar cataract OMIM:615274
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Classic Phenylketonuria
Attention deficit hyperactivity disorder, Cataract, Tremor, Hyperphenylalaninemia ORPHA:79254
Succinic Semialdehyde Dehydrogenase Deficiency
Increased level of gamma-aminobutyric acid in urine, Elevated circulating gamma-aminobutyric acid... OMIM:271980
Purine Nucleoside Phosphorylase Deficiency
Decreased proportion of CD3-positive T cells, Autoimmune thrombocytopenia, Autoimmune hemolytic a... ORPHA:760
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis ORPHA:1068
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, T lymphocytopenia, Leukopenia, Hepatosplenomegaly, Impaired neutrophil chemotaxis, ... OMIM:618986
Peters Anomaly
Subcapsular cataract, Anterior synechiae of the anterior chamber, Developmental glaucoma, Peters ... ORPHA:708
Retinitis Pigmentosa 84
Cataract OMIM:618220
Neuraminidase Deficiency
Dysmetria, Urinary excretion of sialylated oligosaccharides, Vacuolated lymphocytes, Proteinuria,... OMIM:256550
Alport Syndrome 2, Autosomal Recessive
Nephrotic syndrome, Hematuria, Proteinuria, Cataract, Anterior lenticonus, Nephritis, Renal insuf... OMIM:203780
Amoebic Keratitis
Corneal ulceration, Abnormal anterior chamber morphology, Abnormal cornea morphology, Corneal per... ORPHA:67043
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypokalemia, Hyperactivity, Polyuria, Renal magnesium wasting, Renal potassium wasting, Hypomagne... OMIM:618314
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperactivity, Ataxia, Limb dystonia, Gait ataxia, Hypertriglyceridemia, Tremor ORPHA:363400
Muscle-Eye-Brain Disease
Elevated circulating creatine kinase concentration, Cataract, Gait disturbance ORPHA:588
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Hypoparathyroidism, Familial Isolated, 1
Cataract, Hyperphosphatemia, Hypocalcemia OMIM:146200
Anterior Segment Dysgenesis 2
Sclerocornea, Microcornea, Cataract, Congenital aphakia, Peters anomaly, Anterior segment of eye ... OMIM:610256
Proximal Myotonic Myopathy
Cataract ORPHA:606
Hyperekplexia 2
Astigmatism, Exaggerated startle response OMIM:614619
Isolated Aniridia
Cataract, Aniridia, Peters anomaly ORPHA:250923
Galactokinase Deficiency
Hypergalactosemia, Hepatosplenomegaly, Hypercholesterolemia, Cataract, Increased level of galacti... ORPHA:79237
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Gait ataxia, Hyperactivity, Inability to walk, Dystonia ORPHA:500180
Gyrate Atrophy Of Choroid And Retina
Subcapsular cataract, Aminoaciduria, Cataract, Hyperornithinemia ORPHA:414
Aniridia 2
Cataract, Aniridia OMIM:617141
Cataract 10, Multiple Types
Developmental cataract, Zonular cataract, Posterior Y-sutural cataract OMIM:600881
Congenital Bile Acid Synthesis Defect Type 4
Elevated circulating creatine kinase concentration, Cataract, Ataxia, Tremor ORPHA:79095
Mevalonic Aciduria
Normocytic hypoplastic anemia, Hepatosplenomegaly, Leukocytosis, Cataract, Fluctuating splenomega... OMIM:610377
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity, Hyperopic astigmatism ORPHA:397973
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity, Urinary incontinence, Nocturia, Urinary hesitancy, Urinary urgency, Neonatal hyper... OMIM:609727
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Dystonia, Athetosis, Ataxia ORPHA:382
Mend Syndrome
Cataract, Hyperactivity OMIM:300960
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hydronephrosis, Cataract, Inability to walk, Renal hypoplasia, Aminoaciduria, Calcinosis OMIM:617913
Dystonia, Juvenile-Onset
Cataract, Generalized dystonia OMIM:607371
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Anemia, Hyperbilirubinemia, Hyperammonemia, Decreased HDL cholesterol concentration, Hypergalacto... ORPHA:247598
Stiff Person Spectrum Disorder
Exaggerated startle response, Falls, Difficulty walking ORPHA:3198
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Lens subluxation, Microphakia ORPHA:171844
Familial Isolated Hypoparathyroidism
Cataract, Hypocalcemia, Nephropathy ORPHA:2238
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Myoclonic-Astatic Epilepsy
Hyperactivity, Tremor, Ataxia, Unsteady gait, Attention deficit hyperactivity disorder ORPHA:1942
X-Linked Creatine Transporter Deficiency
Dystonia, Abnormal circulating creatine concentration, Hyperactivity, Athetosis, Ataxia ORPHA:52503
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Dystonia, Cataract, Inability to walk, Athetosis, Ataxia, Tremor, Elevated circulating creatine k... OMIM:615356
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Ataxia, Iris hypopigmentation, Gait imbalance, Broad-based gait, Tremor ORPHA:98794
Leiomyomatosis, Diffuse, With Alport Syndrome
Hematuria, Proteinuria, Cataract, Lenticonus, Anterior lenticonus, Abnormal renal physiology, Nep... OMIM:308940
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract OMIM:193230
Citrullinemia Type Ii
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hyperactivity, Elevated plasma citrulline,... ORPHA:247585
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hypochromic anemia, Cataract, Ataxia, Abnormality of neutrophils, Ocular albinism, Iris hypopigme... ORPHA:2720
Cataract 5, Multiple Types
Zonular cataract, Pulverulent cataract, Nuclear cataract, Anterior polar cataract, Lamellar cataract OMIM:116800
Dent Disease
Glycosuria, Nephrocalcinosis, Nephrolithiasis, Hematuria, Hyperuricosuria, Proteinuria, Hypercalc... ORPHA:1652
Angelman Syndrome
Hyperactivity, Blue irides, Limb tremor, Progressive gait ataxia, Broad-based gait OMIM:105830
Intellectual Developmental Disorder, Autosomal Recessive 71
Micropenis, Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Isolated Ectopia Lentis
Cataract, Ectopia pupillae, Ectopia lentis ORPHA:1885
Autosomal Dominant Optic Atrophy And Cataract
Anterior cortical cataract, Anterior subcapsular cataract, Resting tremor, Cataract, Ataxia, Ceru... ORPHA:67036
Insensitivity To Pain, Congenital, With Anhidrosis
Corneal ulceration, Corneal scarring, Hyperactivity, Keratitis, Opacification of the corneal stro... OMIM:256800
Transketolase Deficiency
Renal cyst, Elevated circulating ribitol concentration, Cataract, Increased level of ribose in ur... ORPHA:488618
Late Infantile Neuronal Ceroid Lipofuscinosis
Astigmatism, Inability to walk, Hyperactivity, Ataxia, Gait disturbance ORPHA:168491
Coloboma, Ocular, Autosomal Recessive
Cataract, Lens subluxation, Iris coloboma OMIM:216820
Chromosome 15Q25 Deletion Syndrome
Attention deficit hyperactivity disorder, Hyperactivity, Macrocytic anemia OMIM:614294
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Exaggerated startle response OMIM:609541
Legius Syndrome
Dystonia, Nephrolithiasis, Cataract, Hyperactivity, Male urethral meatus stenosis, Acute monocyti... ORPHA:137605
Spastic Tetraplegia And Axial Hypotonia, Progressive
Ataxia, Exaggerated startle response OMIM:618598
Decreased urine alpha-ketoglutarate concentration, Hyperlysinemia, Dysmetria, Cystinuria, Opistho... ORPHA:2203
X-Linked Adrenoleukodystrophy
Hyperactivity, Gait disturbance, Urinary bladder sphincter dysfunction, Neurogenic bladder, Atten... ORPHA:43
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Difficulty walking, Exaggerated startle response ORPHA:320406
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Aromatic L-Amino Acid Decarboxylase Deficiency
Oculogyric crisis, Blepharospasm, Athetosis, Limb dystonia, Limb tremor, Exaggerated startle resp... OMIM:608643
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Resting tremor, Cataract, Head tremor, Ataxia, Urinary incontinence ORPHA:314404
Tay-Sachs Disease
Dysmetria, Dystonia, Increased serum beta-hexosaminidase, Inability to walk, Laryngeal dystonia, ... ORPHA:845
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Shallow anterior chamber, Persistent pupillary membrane, Microcornea, Cataract, Corneal opacity, ... OMIM:221900
X-Linked Cerebral Adrenoleukodystrophy
Dysmetria, Hyperactivity, Inability to walk, Ataxia, Gait disturbance, Abnormal circulating fatty... ORPHA:139396
Polycystic Kidney, Cataract, And Congenital Blindness
Cataract, Microcoria, Polycystic kidney dysplasia OMIM:263100
Aniridia 1
Anterior subcapsular cataract, Hypoplasia of the iris, Cataract, Aniridia, Ectopia pupillae, Opac... OMIM:106210
Angelman Syndrome
Astigmatism, Inability to walk, Hyperactivity, Ataxia, Iris hypopigmentation, Keratoconus, Broad-... ORPHA:72
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Elevated circulating creatine kinase concentration, Cataract, Exaggerated startle response OMIM:253800
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Ataxia, Broad-based gait, Exaggerated startle response ORPHA:438216
Sandhoff Disease
Urinary incontinence, Hepatosplenomegaly, Ataxia, Exaggerated startle response OMIM:268800
Neurodegeneration With Brain Iron Accumulation 2B
Dysmetria, Dystonia, Intention tremor, Hyperactivity, Gait ataxia, Dysdiadochokinesis OMIM:610217
Diaminoaciduria, Oroticaciduria, Spastic gait, Hyperactivity, Hyperargininemia, Hyperammonemia OMIM:207800
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Pierson Syndrome
Diffuse mesangial sclerosis, Hypoproteinemia, Uveal ectropion, Hypoplasia of the ciliary body, Ne... OMIM:609049
Hyperactivity, Hyperhistidinemia, Histidinuria ORPHA:2157
Oculoauricular Syndrome
Developmental cataract, Sclerocornea, Microcornea, Cataract, Posterior embryotoxon, Ocular anteri... OMIM:612109
Persistent Hyperplastic Primary Vitreous
Shallow anterior chamber, Developmental cataract, Persistent pupillary membrane, Microcornea, Cat... ORPHA:91495
Stiff-Person Syndrome
Anemia, Opisthotonus, Exaggerated startle response OMIM:184850
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Blepharospasm, Hyperactivity, Akinesia, Ataxia, Acanthocytosis, Gait disturbance, Urina... OMIM:234200
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Proximal Renal Tubular Acidosis
Glycosuria, Band keratopathy, Hypokalemia, Nephrocalcinosis, Nephrolithiasis, Bicarbonaturia, Hyp... ORPHA:47159
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Oculoectodermal Syndrome
Microcornea, Astigmatism, Hyperactivity, Bladder exstrophy, Limbal dermoid, Opacification of the ... OMIM:600268
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Dysmetria, Hand tremor, Astigmatism, Hyperactivity, Ataxia, Unsteady gait, Gait ataxia, Broad-bas... OMIM:614756
Gm1 Gangliosidosis Type 1
Urinary glycosaminoglycan excretion, Hepatosplenomegaly, Increased urinary galactosylated oligosa... ORPHA:79255
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Familial Gestational Hyperthyroidism
Hyperactivity, Hand tremor ORPHA:99819
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Hand tremor ORPHA:424
Resting tremor, Lingual dystonia, Blepharospasm, Hyperactivity, Splenomegaly, Acanthocytosis, Lim... ORPHA:2388
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Exaggerated startle response ORPHA:521426
Hereditary Sensory And Autonomic Neuropathy Type 4
Corneal ulceration, Corneal scarring, Hyperactivity, Chronic kidney disease, Tooth abscess, Absce... ORPHA:642
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Chordee, Hydronephrosis, Enuresis, Hypospadias, Pelvic kidney, Ureteropelvic junction obstruction... OMIM:619522
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Dystonia, Nephrolithiasis, Decreased serum iron, Hydronephrosis, Inability to walk, Anemia, Exagg... ORPHA:438213
22Q11.2 Deletion Syndrome
Multiple renal cysts, Posterior embryotoxon, Renal hypoplasia, Cataract, Hypocalcemia, Splenomega... ORPHA:567


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 Arvcf

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 Arvcf.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Arvcftm1a(EUCOMM)Wtsi_Hmgu PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Arvcftm1a(EUCOMM)Wtsi/Hmgu PMC6459510
Critical reappraisal of mechanistic links of copy number variants to dimensional constructs of neuropsychiatric disorders in mouse models. Psychiatry and clinical neurosciences (March 2018) Arvcftm1e(EUCOMM)Wtsi 29369447

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MGI Allele Allele Type Produced
Arvcftm1e(EUCOMM)Wtsi Targeted, non-conditional allele Mice, ES Cells
Arvcftm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Arvcftm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Arvcftm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Arvcftm1e.1(EUCOMM)Wtsi Promoter excision from Targeted, non-conditional allele Mice

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