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Gene: Arvcf MGI:109620

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Gene Summary

Name:
armadillo repeat gene deleted in velocardiofacial syndrome
Synonyms:
N/A

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IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal gait Arvcftm1e(EUCOMM)Wtsi HOM Early adult 7.36×10-15
hyperactivity Arvcftm1e(EUCOMM)Wtsi HOM Early adult 4.27×10-05
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 lens morphology Arvcftm1e(EUCOMM)Wtsi HOM Early adult 8.02×10-06
abnormal behavior Arvcftm1e(EUCOMM)Wtsi HOM   Early adult 1.68×10-07
abnormal urination Arvcftm1e(EUCOMM)Wtsi HOM   Early adult 6.16×10-05
increased circulating alkaline phosphatase level Arvcftm1e(EUCOMM)Wtsi HOM Early adult 8.78×10-05

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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.

X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

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X-ray

XRay Images Forepaw

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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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
phenotypes		 Matching phenotypes Source
22Q11.2 Deletion Syndrome
Cataract, Hypospadias, Splenomegaly, Renal hypoplasia, Multiple renal cysts, Hypocalcemia, Polycy... ORPHA:567

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract, Ataxia ORPHA:1397
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract, Spastic gait, Limb ataxia, Gait ataxia OMIM:617133
Hyperlysinemia, Type I
Hyperactivity, Ectopia lentis, Hyperlysinuria, Hyperlysinemia, Anemia OMIM:238700
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Dysequilibrium Syndrome
Cataract, Ataxia, Gait disturbance ORPHA:1766
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Galactosemia Ii
Galactosuria, Hypergalactosemia, Cataract OMIM:230200
Spastic Paraparesis-Deafness Syndrome
Cataract, Ataxia, Gait disturbance ORPHA:2815
Spastic Paraparesis And Deafness
Tremor, Cataract OMIM:312910
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt... OMIM:614470
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, 3-Methylglutaconic aciduria, Cataract OMIM:619813
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Cataract 42
Cataract, Developmental cataract OMIM:115900
Galactosemia Iv
Cataract, Hypergalactosemia OMIM:618881
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior, Hyperglycinuria, Hyperprolinemia, Prolinuria, Hydroxy... OMIM:239500
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Optic Atrophy 3, Autosomal Dominant
Tremor, Cataract OMIM:165300
Immunodeficiency 91 And Hyperinflammation
Renal insufficiency, Membranoproliferative glomerulonephritis, Neutrophilia, Elevated circulating... OMIM:619644
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Leukopenia, Monocytosis, Refractory anemia OMIM:616871
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Hypoalphalipoproteinemia, Primary, 2
Decreased HDL cholesterol concentration, Corneal arcus, Cataract OMIM:618463
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia ORPHA:2688
Phenylketonuria
Maternal hyperphenylalaninemia, Hyperactivity, Cataract, Increased level of hippuric acid in urin... OMIM:261600
Trichomegaly
Cataract OMIM:190330
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count OMIM:615592
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors, Dystonia OMIM:301107
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Limb dystonia OMIM:620270
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Cataract, Hyperbilirubinemia OMIM:618660
Bardet-Biedl Syndrome 18
Renal insufficiency, Cataract, Stage 5 chronic kidney disease OMIM:615995
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Broad-based gait, Cataract, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Cerebella... OMIM:224050
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Tremor, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Morm Syndrome
Hyperactivity, Micropenis, Cataract, Aggressive behavior ORPHA:75858
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Cataract, Gait disturbance, Elevated circulating creatine kinase concentration, Tip-toe gait OMIM:617404
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Aggressive behavior, Tremor, Abnormal repetitive mannerisms OMIM:619470
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Transient hyperphenylalanine... OMIM:612716
Hartnup Disorder
Episodic ataxia, Hyperactivity, Attention deficit hyperactivity disorder, Neutral hyperaminoaciduria OMIM:234500
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... ORPHA:486
Xeroderma Pigmentosum, Complementation Group G
Tremor, Cataract, Ataxia OMIM:278780
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Hypertriglyceridemia, Ataxia, Tremor, Dystonia OMIM:615924
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Leukoencephalopathy With Vanishing White Matter 2
Unsteady gait, Cataract OMIM:620312
Cataract-Nephropathy-Encephalopathy Syndrome
Renal tubular dysfunction, Cataract ORPHA:1380
Mannosidosis, Beta A, Lysosomal
Increased urinary disaccharide excretion, Hyperactivity, Tortuosity of conjunctival vessels, Aggr... OMIM:248510
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Astigmatism, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor... OMIM:619927
Alpha-Methylacyl-Coa Racemase Deficiency
Cataract, Ataxia, Tremor, Elevated circulating phytanic acid concentration, Increased circulating... OMIM:614307
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinuria, Hyperglycinemia OMIM:605899
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Spastic Paraplegia 5A, Autosomal Recessive
Cataract, Postural tremor, Urinary incontinence, Abnormal circulating cholesterol concentration, ... OMIM:270800
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Blue irides, Recurrent hand flapping, Self-mut... OMIM:615516
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14
Inability to walk, Cataract, Ataxia, Elevated circulating creatine kinase concentration OMIM:615350
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, Athetosis, Dystonia ORPHA:382
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive m... OMIM:618718
Cataract 47
Microcornea, Cataract, Glycosuria OMIM:612018
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Myopic astigmatism, Developmental cataract, Atte... OMIM:620141
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Baralle-Macken Syndrome
Inability to walk, Cataract, Urinary incontinence, Dystonia OMIM:619255
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Dystonia-Deafness Syndrome 1
Cataract, Generalized dystonia, Oculogyric crisis, Leg dystonia, Pseudobulbar paralysis, Dysphagi... OMIM:607371
Autosomal Recessive Spastic Paraplegia Type 26
Pseudobulbar paralysis, Cataract, Gait disturbance, Dystonia ORPHA:101006
Pellagra-Like Syndrome
Cataract, Ataxia OMIM:260650
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Tremor, Abnormal ... ORPHA:3077
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Anemia, Hepatosplenomegaly OMIM:273680
Peroxisome Biogenesis Disorder 8B
Cataract, Ataxia, Unsteady gait, Elevated circulating phytanic acid concentration, Limb tremor, D... OMIM:614877
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... OMIM:619802
Spastic Paraplegia 9B, Autosomal Recessive
Cataract, Urinary incontinence, Tremor, Pseudobulbar paralysis, Urinary retention, Gait disturbance OMIM:616586
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Broad-based gait, Ataxia, Inappropriate laughter, Polyphagia, Iris hypopigmentation ORPHA:411515
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Hypoalbumin... OMIM:226990
Senior-Loken Syndrome
Cataract, Ataxia, Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis ORPHA:3156
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cataract, Dysmetria, Tortuosity of conjunctival vessels, Limb ataxia, Progressive cerebellar atax... ORPHA:284289
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Aggressive behavior, Inability to walk, Nephrolithiasis, Choreoathetosis, Self-inj... OMIM:620023
Juvenile Huntington Disease
Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Progressive cerebellar ataxia, Dystonia ORPHA:248111
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria, Cataract, Iris coloboma OMIM:120433
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Cataract, Hyperamylasemia, Band keratopathy, Impaired renal tubular reabsorption of bicarbonate, ... OMIM:604278
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Dystonia, Impulsivity, Aggressive behavior, Inability to walk, Gait ataxia, Dysphagia ORPHA:500180
Usher Syndrome Type 3
Cataract, Ataxia, Astigmatism, Iris hypopigmentation ORPHA:231183
Genetic Hyperferritinemia Without Iron Overload
Cataract, Increased circulating ferritin concentration, Abnormal serum iron concentration, Elevat... ORPHA:254704
Cochleosaccular Degeneration-Cataract Syndrome
Cataract, Ataxia ORPHA:3233
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Cardiomyopathy, Dilated, 1Ii
Cataract, Elevated circulating creatine kinase concentration OMIM:615184
Cln5 Disease
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Inability to walk, Unsteady gait, Dysmetria, ... ORPHA:228360
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Myopathy With Extrapyramidal Signs
Extremely elevated creatine kinase, Hyperactivity, Ataxia, Elevated circulating creatine kinase c... OMIM:615673
Triokinase And Fmn Cyclase Deficiency Syndrome
Broad-based gait, Cataract, Hypoalbuminemia, Microcytic anemia OMIM:618805
Coats Disease
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology ORPHA:190
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Nephrolithiasis, Self-biting, Self-injurious beh... OMIM:619827
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome... OMIM:612541
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Classic Phenylketonuria
Cataract, Tremor, Self-injurious behavior, Attention deficit hyperactivity disorder, Hyperphenyla... ORPHA:79254
Galactosemia I
Hemolytic anemia, Cataract, Increased level of galactitol in plasma, Aminoaciduria, Albuminuria, ... OMIM:230400
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Wolfram Syndrome 1
Sideroblastic anemia, Neurogenic bladder, Hydroureter, Cataract, Ataxia, Megaloblastic anemia, Tr... OMIM:222300
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cataract, Ataxia, Dysmetria, Subcapsular cataract, Intention tremor OMIM:612674
Immunodeficiency 11A
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Aniridia 2
Aniridia, Iris coloboma, Cataract, Lens subluxation OMIM:617141
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Hypokalemia, Hyp... OMIM:618314
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tremor, Tongue thrusting, Inap... ORPHA:98794
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Spastic Paraplegia 9A, Autosomal Dominant
Resting tremor, Cataract, Urinary incontinence, Gait ataxia, Urinary urgency, Gait disturbance, S... OMIM:601162
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp... OMIM:618986
Cataract 10, Multiple Types
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Neurogenic bladder, Cataract, Dysmetria, Dysphagia OMIM:619780
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Waddling gait, Cataract, Abnormal circulating creatine kinase concentration, Difficulty walking, ... ORPHA:369840
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Cataract, Proteinuria, Corneal erosion, Stage 5 chronic kidney disease, Hema... OMIM:203780
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Hypoparathyroidism, Familial Isolated, 1
Cataract, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Purine Nucleoside Phosphorylase Deficiency
Lymphopenia, Hyperactivity, Autoimmune hemolytic anemia, Hypouricemia, Ataxia, Autoimmune thrombo... ORPHA:760
Stiff Person Spectrum Disorder
Exaggerated startle response, Falls, Difficulty walking ORPHA:3198
Proximal Myotonic Myopathy
Cataract ORPHA:606
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Transketolase Deficiency
Increased level of ribose in urine, Cataract, Renal cyst, Self-injurious behavior, Conjunctivitis... ORPHA:488618
Isolated Aniridia
Aniridia, Cataract, Peters anomaly ORPHA:250923
Hyperekplexia 2
Exaggerated startle response, Astigmatism OMIM:614619
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Exaggerated startle response, Inappropriate behavior, Dystonia ORPHA:309246
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Agitation OMIM:618056
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... OMIM:608643
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperactivit... ORPHA:247585
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response, Cataract, Hydronephrosis OMIM:620327
X-Linked Creatine Transporter Deficiency
Hyperactivity, Ataxia, Abnormal circulating creatine concentration, Athetosis, Dystonia, Self-mut... ORPHA:52503
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity, Urinary incontinence, Urinary hesitancy, Urinary urgency, Neonatal hyperbilirubine... OMIM:609727
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Ketonuria, Increased... ORPHA:247598
Leiomyomatosis, Diffuse, With Alport Syndrome
Renal insufficiency, Cataract, Proteinuria, Stage 5 chronic kidney disease, Dysphagia, Hematuria,... OMIM:308940
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Cataract, Ataxia, Conjugated hyperbilirubinemia, Splenomegaly, Inability to wal... OMIM:608885
Aniridia 3
Aniridia, Cataract OMIM:617142
Norrie Disease
Cataract, Corneal opacity, Aggressive behavior, Leukocoria, Hypoplasia of the iris, Buphthalmos, ... OMIM:310600
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Waddling gait, Cataract, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Inab... OMIM:615356
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Tay-Sachs Disease
Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, Inability to walk, Dys... ORPHA:845
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Insensitivity To Pain, Congenital, With Anhidrosis
Hyperactivity, Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corn... OMIM:256800
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Exaggerated startle response OMIM:609541
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Exaggerated startle response OMIM:620114
Dent Disease
Renal insufficiency, Hyperphosphaturia, Renal hypophosphatemia, Elevated circulating creatine kin... ORPHA:1652
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Ataxia, Urinary incontinence, Akinesia, Acanthocytosis, Tremor, Phonic tics, Dysph... OMIM:234200
Cataract 20, Multiple Types
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract OMIM:116100
Autosomal Dominant Optic Atrophy And Cataract
Resting tremor, Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Postural tr... ORPHA:67036
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Cataract, Splenomegaly, Inability to walk, Renal hypoplasia, Nephrocalc... OMIM:617913
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Difficulty walking ORPHA:320406
Xeroderma Pigmentosum, Complementation Group D
Cataract, Ataxia, Keratitis, Choreoathetosis, Keratoconjunctivitis sicca, Conjunctivitis, Corneal... OMIM:278730
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Impulsivity, Dysphagia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dystonia, Inte... OMIM:610217
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia OMIM:618598
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Ataxia, Broad-based gait, Dystonia ORPHA:438216
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Cataract, Elevated circulating creatine kinase concentration OMIM:253800
Sandhoff Disease
Exaggerated startle response, Ataxia, Urinary incontinence, Hepatosplenomegaly OMIM:268800
Argininemia
Hyperactivity, Anorexia, Hyperammonemia, Diaminoaciduria, Hyperargininemia, Oroticaciduria, Spast... OMIM:207800
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response, Ataxia OMIM:616881
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... OMIM:221900
Stiff-Person Syndrome
Exaggerated startle response, Anemia, Opisthotonus OMIM:184850
Choreoacanthocytosis
Elevated circulating creatine kinase concentration, Compulsive behaviors, Limb dystonia, Loss of ... ORPHA:2388
Aniridia 1
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... OMIM:106210
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Inability to walk, Exaggerated startle response OMIM:617864
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Cataract, Band keratopathy, Bicarbonaturia, Bicarbonate-wasting renal tubular ... ORPHA:47159
Pierson Syndrome
Diffuse mesangial sclerosis, Rieger anomaly, Cataract, Proteinuria, Hypoplasia of the ciliary bod... OMIM:609049
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Partial development of the penile shaft OMIM:608800
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Exaggerated startle response OMIM:617281
Histidinemia
Histidinuria, Hyperactivity, Hyperhistidinemia ORPHA:2157
Sandhoff Disease, Infantile Form
Exaggerated startle response, Hepatosplenomegaly ORPHA:309155
Persistent Hyperplastic Primary Vitreous
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... ORPHA:91495
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Dystonia, ... ORPHA:79255
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Dysphagia OMIM:617301
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Plaa-Associated Neurodevelopmental Disorder
Impaired oropharyngeal swallow response, Exaggerated startle response, Dystonia ORPHA:521426
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response, Hypoasparaginemia OMIM:615574
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Dysphagia OMIM:617527
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Broad-based gait, Decreased serum iron, Inability to walk, Nephroli... ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Exaggerated startle response, Hypospadias, Urinary incontinence, Grade III ve... OMIM:619522
22Q11.2 Deletion Syndrome
Cataract, Hypospadias, Splenomegaly, Renal hypoplasia, Multiple renal cysts, Hypocalcemia, Polycy... ORPHA:567
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response, Dysphagia OMIM:618367

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 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 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Arvcf Dependent Adherens Junction Stability is Required to Prevent Age-Related Cortical Cataracts. Frontiers in cell and developmental biology (July 2022) Arvcftm1e(EUCOMM)Wtsi PMC9297370
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

Order Mouse and ES Cells

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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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