Gene: Vti1a MGI:1855699

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Gene Summary

Name:
vesicle transport through interaction with t-SNAREs 1A
Synonyms:
Vti1-rp2,  1110018K19Rik,  1110014F16Rik,  4921537J05Rik

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal behavior Vti1atm1.1(KOMP)Vlcg HOM Early adult 6.20×10-14
increased circulating alkaline phosphatase level Vti1atm1.1(KOMP)Vlcg HOM Early adult 2.33×10-08
abnormal auditory brainstem response Vti1atm1.1(KOMP)Vlcg HOM   Early adult 3.65×10-06
enlarged epididymis Vti1atm1.1(KOMP)Vlcg HOM Early adult 0.00
decreased fasting circulating glucose level Vti1atm1.1(KOMP)Vlcg HOM Early adult 1.80×10-06
decreased thigmotaxis Vti1atm1.1(KOMP)Vlcg HOM Early adult 6.06×10-14
hyperactivity Vti1atm1.1(KOMP)Vlcg HOM Early adult 6.57×10-20
limb grasping Vti1atm1.1(KOMP)Vlcg HOM Early adult 5.49×10-06
abnormal testis morphology Vti1atm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal epididymis morphology Vti1atm1.1(KOMP)Vlcg HOM Early adult 0.00

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Blood  Section images heterozygote 100% (2 of 2)
Bone marrow  Section images heterozygote 100% (2 of 2)
Brown adipose tissue  Section images heterozygote 100% (2 of 2)
Cecum  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Colon  Section images heterozygote 100% (2 of 2)
Diaphragm  Section images heterozygote 100% (2 of 2)
Duodenum  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 50% (1 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Gonadal fat pad  Section images heterozygote 100% (2 of 2)
Harderian gland  Section images heterozygote 100% (2 of 2)
Ileum  Section images heterozygote 100% (2 of 2)
Jejunum  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Mammary gland  Section images heterozygote 50% (1 of 2)
Mesenteric adipose tissue  Section images heterozygote 100% (2 of 2)
Mesenteric lymph node  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Parathyroid gland  Section images heterozygote 100% (2 of 2)
Parotid gland  Section images heterozygote 100% (2 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Quadriceps  Section images heterozygote 100% (2 of 2)
Sciatic nerve  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Sublingual gland  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Thyroid gland  Section images heterozygote 100% (2 of 2)
Tongue  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Trigeminal V nerve  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Vagina  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Vesicular gland  Section images heterozygote 50% (1 of 2)
Brain N/A heterozygote Not available
Brainstem N/A heterozygote Not available
Cartilage tissue N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Gall bladder N/A heterozygote Not available
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Large intestine N/A heterozygote Not available
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote Not available
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
chest bone Unavailable
colon 8.73% (11 of 126)
diaphragm 0.0%
duodenum 0.79% (1 of 126)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 584)
hindlimb 0.0%
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
ileum 10.32% (13 of 126)
jejunum 3.97% (5 of 126)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
tongue 3.97% (5 of 126)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.67% (14 of 381)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Adult LacZ

LacZ Images Section

209 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Human diseases caused by Vti1a 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Vti1a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Mental Retardation, Autosomal Dominant 52
Cryptorchidism, Anxiety, Hyperactivity OMIM:617796
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Impulsivity, Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Aggressive behavior, Hyperactivity OMIM:309548
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Tremor, Bipolar affective disorder, Aggressive behavior, Broad-based gait, Macroorchidism, Restin... ORPHA:3077
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Auditory Neuropathy, Autosomal Dominant, 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Irritability, Hyperactivity OMIM:616657
Mental Retardation, Autosomal Recessive 37
Aggressive behavior, Hyperactivity OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Aggressive behavior, Hyperactivity ORPHA:356996
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Diethylstilbestrol Syndrome
Cryptorchidism, Abnormality of the uterus, Abnormal reproductive system morphology, Abnormal test... ORPHA:1916
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
EEG abnormality, Hyperactivity ORPHA:436151
Immunodeficiency 8
Hyperactivity OMIM:615401
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Hyperprolinemia, Type I
Aggressive behavior, Ataxia, EEG abnormality, Hyperactivity, Hyperprolinemia OMIM:239500
Ravine Syndrome
Abnormal auditory evoked potentials, Ataxia ORPHA:99852
Glycine Encephalopathy
Lethargy, Aggressive behavior, Hyperglycinemia, Impulsivity, Irritability, Hyperactivity OMIM:605899
Landau-Kleffner Syndrome
EEG with frontal focal spikes, EEG with temporal focal spikes, Interictal EEG abnormality, Aggres... ORPHA:98818
Intellectual Developmental Disorder, X-Linked 104
Tremor, Aggressive behavior, Abnormality of the pinna, Ataxia, Hyperactivity, Optic atrophy OMIM:300983
Mohr-Tranebjaerg Syndrome
Inability to walk, Tremor, Dystonia, Attention deficit hyperactivity disorder, Absent brainstem a... ORPHA:52368
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Autosomal Recessive Spastic Paraplegia Type 44
Difficulty walking, Abnormal motor evoked potentials, Ataxia, Abnormal auditory evoked potentials... ORPHA:320401
8p23.1 deletion syndrome
Cryptorchidism, Hyperactivity DECIPHER:39
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hy... ORPHA:35878
Phenylketonuria
Self-mutilation, Maternal hyperphenylalaninemia, Aggressive behavior, Depression, Hyperphenylalan... OMIM:261600
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Gait disturbance, Ataxia, Abnormal auditory evoked ... OMIM:125250
Insulin-Like Growth Factor I Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:608747
Smith-Magenis syndrome
Self-mutilation, Hyperactivity DECIPHER:8
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Lennox-Gastaut Syndrome
Personality disorder, Aggressive behavior, EEG with focal sharp slow waves, EEG abnormality, Fall... ORPHA:2382
Late-Infantile/Juvenile Krabbe Disease
Tremor, Prolonged brainstem auditory evoked potentials, EEG with persistent abnormal rhythmic act... ORPHA:206443
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Impulsivity, Aggressive behavior, Hyperactivity OMIM:604317
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Dystonia, Ataxia, Hypertriglyceridemia, Hyperactivity OMIM:615924
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Hypsarrhythmia, Depression, EEG with focal epileptiform discharges, Multifocal epilepti... ORPHA:88616
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Tremor, EEG with spike-wave complexes, Truncal ataxia, Agg... ORPHA:228360
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Fraxe Intellectual Disability
Prominent ear helix, Impulsivity, Aggressive behavior, Hyperactivity ORPHA:100973
Mannosidosis, Beta A, Lysosomal
Hearing impairment, Aggressive behavior, Hyperactivity OMIM:248510
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy OMIM:617519
Abcd Syndrome
Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon OMIM:600501
Clcn4-Related X-Linked Intellectual Disability Syndrome
Cryptorchidism, Bipolar affective disorder, Aggressive behavior, Depression, Self-injurious behav... ORPHA:485350
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Transient hyperphenylalaninemia, Tremor, Dystonia, Aggressive behavior, Ataxia, Hyperactivity OMIM:612716
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Juvenile Huntington Disease
Dystonia, Gait ataxia, Depression, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Irritabil... ORPHA:248111
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Aggressive behavior, Macrotia, Posteriorly rotated ears, Anxiety, Hyperactivity OMIM:609425
Succinic Semialdehyde Dehydrogenase Deficiency
Aggressive behavior, Elevated circulating gamma-aminobutyric acid concentration, Self-injurious b... OMIM:271980
Charcot-Marie-Tooth Disease, Type 4D
Gait disturbance, Hearing impairment, Abnormal auditory evoked potentials, Decreased nerve conduc... OMIM:601455
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Tremor, Self-injurious behavior, Paroxysmal bursts of laughter, EEG abnormalit... OMIM:618718
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Mental Retardation, Autosomal Dominant 43
Impulsivity, Anxiety, Hyperactivity OMIM:616977
Aminoacylase 1 Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:609924
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Cryptorchidism, Tremor, Gait ataxia, Aggressive behavior, Abnormality of the pinna, Hypospadias, ... OMIM:300354
Intellectual Developmental Disorder, Autosomal Recessive 71
Cryptorchidism, Macrotia, Hyperactivity, Micropenis, Attention deficit hyperactivity disorder OMIM:618504
Alazami-Yuan Syndrome
Cryptorchidism, Hyperactivity OMIM:617126
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Macrotia OMIM:300928
Intellectual Developmental Disorder, X-Linked 21
Uplifted earlobe, Impulsivity, Macroorchidism, Hyperactivity OMIM:300143
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Aggressive behavior, Hearing impairment, Hyperactivity, Precocious puberty, Broad-based gait ORPHA:457260
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Cryptorchidism, Aggressive behavior, Hyperactivity OMIM:615824
Rasmussen Subacute Encephalitis
Inability to walk, Hemidystonia, EEG with focal epileptiform discharges, Interictal epileptiform ... ORPHA:1929
Intellectual Developmental Disorder, X-Linked 30
Anxiety, Aggressive behavior, Hyperactivity, Macrotia OMIM:300558
Mental Retardation, Autosomal Recessive 39
Hyperactivity, Aggressive behavior, Macrotia OMIM:615541
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Ataxia, Absent brainstem auditory responses, Sensorineural hearing im... ORPHA:1215
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Inappropriate laughter, Ataxia, EEG abnormality, Hyperactivity, Broad-based gait, Happy demeanor ORPHA:411515
Coffin-Siris Syndrome 8
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:618362
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration, Aggressive behavior, Hyperacti... ORPHA:85327
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Macrotia OMIM:301013
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity ORPHA:521258
Xq25 Duplication Syndrome
Anxiety, Hyperactivity OMIM:300979
Renal Cysts And Diabetes Syndrome
Maturity-onset diabetes of the young, Glucose intolerance, Elevated circulating creatinine concen... OMIM:137920
Myoclonic-Astatic Epilepsy
Tremor, Abnormal emotion/affect behavior, EEG with generalized slow activity, EEG with polyspike ... ORPHA:1942
Mental Retardation, Autosomal Recessive 61
Posteriorly rotated ears, EEG abnormality, Aggressive behavior, Hyperactivity OMIM:617773
47,Xyy Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Azoospermia, Oligospermia, Macroorchidi... ORPHA:8
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism, Hyperactivity, Macrotia OMIM:300624
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Attention deficit hyperactivity disorder, Insulin resistance, Hypoglycemia, Neonatal hyperbilirub... ORPHA:73272
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Sensorineural hearing impairment, Aggressive behavior, Hyperactivity OMIM:618342
Sotos Syndrome 3
Hyperactivity OMIM:617169
Inverted Duplicated Chromosome 15 Syndrome
Cryptorchidism, Aggressive behavior, Low-set, posteriorly rotated ears, Hypogonadism, Self-biting... ORPHA:3306
Adult-Onset Autosomal Dominant Leukodystrophy
Dysdiadochokinesis, Tremor, Gait ataxia, Autonomic bladder dysfunction, Orthostatic hypotension, ... ORPHA:99027
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Aggressive behavior, Impulsivity, EEG abnormality, Hype... ORPHA:500180
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Lethargy, Hyperactivity OMIM:274270
Optic Atrophy 11
Facial diplegia, Macrotia, Ataxia, Hearing impairment, Dysmetria, Hyperactivity, Optic atrophy OMIM:617302
2Q23.1 Microdeletion Syndrome
Cryptorchidism, Self-injurious behavior, Ataxia, Paroxysmal bursts of laughter, Hyperactivity, Hy... ORPHA:228402
Hyperphosphatasia With Mental Retardation Syndrome 6
Thickened helices, Aggressive behavior, EEG with multifocal slow activity, Hyperactivity, Elevate... OMIM:616809
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Aggressive behavior, Hearing impairment, Hyperactivity, Precocious puberty, Broad-based gait OMIM:300958
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Von Hippel-Lindau Syndrome
Pheochromocytoma, Pancreatic cysts, Epididymal cyst, Sensorineural hearing impairment, Papillary ... OMIM:193300
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Gait ataxia, Hyperinsulinemia, Insulin resistance, Ataxia, Hypertriglyceridemia, Limb dys... ORPHA:363400
Cockayne Syndrome Type 1
Cryptorchidism, Tremor, Male hypogonadism, Increased blood urea nitrogen, Macrotia, Difficulty wa... ORPHA:90321
Charcot-Marie-Tooth Disease Type 1F
Inability to walk, Gait ataxia, Head tremor, Limb ataxia, Absent brainstem auditory responses, Se... ORPHA:101085
Late Infantile Neuronal Ceroid Lipofuscinosis
Inability to walk, EEG with spike-wave complexes, EEG with series of focal spikes, Aggressive beh... ORPHA:168491
Ck Syndrome
Posteriorly rotated ears, Irritability, Aggressive behavior, Hyperactivity ORPHA:251383
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Vestibular areflexia, Absent brainstem auditory res... ORPHA:3240
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity, Cryptorchidism, Diabetes mellitus, Hypospadias OMIM:614613
Ck Syndrome
Posteriorly rotated ears, Irritability, Aggressive behavior, Hyperactivity OMIM:300831
Autism Spectrum Disorder Due To Auts2 Deficiency
Cryptorchidism, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:352490
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Cryptorchidism, Hypoplasia of the semicircular canal, Long-segment aganglionic megacolon, Abnorma... OMIM:609136
Chromosome 15Q25 Deletion Syndrome
Cryptorchidism, Attention deficit hyperactivity disorder, Hyperactivity OMIM:614294
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Aggressive behavior, Macrotia, Irritability, Hyperactivity, Premature ovarian insufficiency ORPHA:391307
Gand Syndrome
Inappropriate laughter, Hyperactivity OMIM:615074
Cri-Du-Chat Syndrome
Self-mutilation, Cryptorchidism, Aggressive behavior, Difficulty walking, Abnormality of the pinn... OMIM:123450
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Aggressive behavior, Self-injurious behavior, Ataxia, Hyperactivity, Athetosis ORPHA:382
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Cryptorchidism, Gait ataxia, Microphallus, Macrotia, Scrotal hypoplasia, Hyperactivity, Micropenis OMIM:300486
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Impulsivity, Aggressive behavior, Hyperactivity ORPHA:101039
13Q12.3 Microdeletion Syndrome
Self-mutilation, Cryptorchidism, Hearing impairment, Hyperactivity ORPHA:412035
Cerebrotendinous Xanthomatosis
Personality disorder, Dystonia, Aggressive behavior, Depression, Gait disturbance, Resting tremor... ORPHA:909
Arthrogryposis, Distal, Type 2A
Cryptorchidism, Hearing impairment, Abnormal auditory evoked potentials OMIM:193700
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Gait disturbance, Ataxia, EEG abnormality, Broad-... ORPHA:206448
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Conductive hearing impairment OMIM:201050
Mental Retardation, Autosomal Recessive 38
Self-mutilation, Unsteady gait, Aggressive behavior, Hyperactivity OMIM:615516
Mend Syndrome
Cryptorchidism, Aggressive behavior, Elevated 8-dehydrocholesterol, Abnormal auditory evoked pote... ORPHA:401973
Smith-Magenis Syndrome
Self-mutilation, Hypercholesterolemia, Morphological abnormality of the middle ear, Head-banging,... OMIM:182290
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Abnormal autonomic nervous system physiology, Ataxia, Emotional labil... ORPHA:35069
Clark-Baraitser Syndrome
Aggressive behavior, Hyperactivity OMIM:617752
Chronic Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural he... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural he... ORPHA:529799
Citrullinemia Type Ii
Hypercholesterolemia, Tremor, Hypoproteinemia, Lethargy, Aggressive behavior, Acute hyperammonemi... ORPHA:247585
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Hyperactivity, Unsteady gait, Broad-based gait, Happy demeanor OMIM:617865
X-Linked Intellectual Disability, Cabezas Type
Tremor, Aggressive behavior, EEG abnormality, Hypoplasia of penis, Hyperactivity, Decreased testi... ORPHA:85293
Floating-Harbor Syndrome
Cryptorchidism, Aggressive behavior, Cochlear malformation, Conductive hearing impairment, Epidid... ORPHA:2044
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Aggressive behavior, Depression, Macrotia, Self-injurious behavior, Irritability, Anxiety, Hypera... ORPHA:449291
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Mental Retardation, Autosomal Dominant 7
Thickened helices, Inappropriate laughter, Macrotia, Gait disturbance, Abnormality of the pinna, ... OMIM:614104
Stankiewicz-Isidor Syndrome
Cryptorchidism, Micropenis, Abnormality of the optic disc, Hearing impairment, Hypospadias, Hyper... OMIM:617516
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hearing impairment, Optic atrophy, Aggressive behavior, Hyperactivity ORPHA:369939
16P12.1P12.3 Triplication Syndrome
Skin-picking, Bilateral cryptorchidism, Nail-biting, Anxiety, Hyperactivity, Attention deficit hy... ORPHA:485405
Von Hippel-Lindau Disease
Pancreatic cysts, Epididymal cyst, Adrenal pheochromocytoma, Papilledema, Papillary cystadenoma o... ORPHA:892
Mend Syndrome
Cryptorchidism, Hyperactivity OMIM:300960
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Tremor, Inappropriate laughter, Ataxia, EEG with abnormally slow frequencies, EEG abnormality, Hy... ORPHA:98794
Graves Disease, Susceptibility To, 1
Irritability, Goiter, Hyperactivity OMIM:275000
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Cryptorchidism, Aggressive behavior, Macrotia, Ataxia, Multifocal epileptiform discharges, Hearin... ORPHA:369891
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Aggressive behavior, Decreased response to growth hormone stimuation test OMIM:615286
X-Linked Creatine Transporter Deficiency
Self-mutilation, Dystonia, Abnormal circulating creatine concentration, Aganglionic megacolon, At... ORPHA:52503
19P13.3 Microduplication Syndrome
Self-injurious behavior, Unilateral cryptorchidism, Posteriorly rotated ears, Irritability, Hyper... ORPHA:447980
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Ataxia, Optic disc pallor OMIM:619260
Cockayne Syndrome A
Cryptorchidism, Tremor, Gait disturbance, Abnormality of the pinna, Ataxia, Sensorineural hearing... OMIM:216400
Chromosome 10Q26 Deletion Syndrome
Cryptorchidism, Aggressive behavior, Scrotal hypoplasia, Sensorineural hearing impairment, Protru... OMIM:609625
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Bradykinesia, Emotional lability, Impulsivity, Dysmetr... OMIM:610217
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Inappropriate crying, Opisthotonus, Hearing impai... ORPHA:206436
Floating-Harbor Syndrome
Cryptorchidism, Conductive hearing impairment, Epididymal cyst, Posteriorly rotated ears, Congeni... OMIM:136140
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypomagnesemia, Hypokalemia, Self-biting, Hyperactivity OMIM:618314
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Cryptorchidism, Neonatal hypoglycemia, Gait disturbance, Hyperactivity, Hypospadias ORPHA:457485
Adenylosuccinase Deficiency
Self-mutilation, Inability to walk, Inappropriate laughter, Gait ataxia, Aggressive behavior, Opi... OMIM:103050
Angelman Syndrome
Inability to walk, Tremor, Inappropriate laughter, Aggressive behavior, Broad-based gait, Self-in... ORPHA:72
X-Linked Adrenoleukodystrophy
Disinhibition, Aggressive behavior, Gait disturbance, Inappropriate sexual behavior, Hyperactivit... ORPHA:43
Hyperlysinemia, Type I
Hyperlysinemia, Hyperactivity OMIM:238700
19P13.12 Microdeletion Syndrome
Cryptorchidism, Conductive hearing impairment, Self-injurious behavior, Hyperlipidemia, Sensorine... ORPHA:254346
Gomez-Lopez-Hernandez Syndrome
Bipolar affective disorder, Depression, Self-injurious behavior, Ataxia, Posteriorly rotated ears... OMIM:601853
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Macrotia, Ataxia, Hypsarrhythmia OMIM:300912
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Sensorineural hearing impairment, Aggressive behavior, Hyperactivity OMIM:600430
Cockayne Syndrome B
Cryptorchidism, Tremor, Abnormality of the pinna, Ataxia, Abnormal auditory evoked potentials, Se... OMIM:133540
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Self-mutilation, Inappropriate laughter, Low frustration tolerance, Optic nerve hypoplasia, Hyper... ORPHA:363686
Pitt-Hopkins-Like Syndrome 1
EEG abnormality, Aggressive behavior, Ataxia, Hyperactivity OMIM:610042
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, EEG with burst suppression, Hypsarrhythmia OMIM:619239
Angelman Syndrome
Progressive gait ataxia, Limb tremor, Paroxysmal bursts of laughter, EEG abnormality, Hyperactivi... OMIM:105830
Intellectual Disability-Strabismus Syndrome
Cryptorchidism, Aggressive behavior, Macrotia, Gait disturbance, Hearing impairment, Impulsivity,... ORPHA:363528
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Male hypogonadism, Difficulty walking, Gait disturbance, Ataxia, Hearing impai... ORPHA:139396
Choreoacanthocytosis
Hair-pulling, Head titubation, Emotional lability, Head-banging, Progressive inability to walk, F... ORPHA:2388
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Cryptorchidism, Macrotia, Abnormality of the pinna, Hypoplastic nipples, Hyperactivity OMIM:618505
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Aggressive behavior, Ataxia, Posteriorly rotated ears, Anxiety, Hyperactivity OMIM:618430
Chromosome 13Q33-Q34 Deletion Syndrome
Cryptorchidism, Aggressive behavior, Bifid scrotum, Penoscrotal transposition, Posteriorly rotate... OMIM:619148
Trisomy 10P
Low voltage EEG, Absent gallbladder, Macrotia, EEG with burst suppression, Posteriorly rotated ea... ORPHA:171929
Early Infantile Epileptic Encephalopathy
Tremor, EEG with spike-wave complexes, Uni- and bilateral multifocal epileptiform discharges, Dys... ORPHA:1934
Potocki-Lupski Syndrome
Hyperactivity, Hearing impairment, EEG abnormality, Hypocholesterolemia OMIM:610883
Mucopolysaccharidosis, Type Iiib
Hearing impairment, Aggressive behavior, Hyperactivity OMIM:252920
Hyperlysinemia
Tremor, Hypoornithinemia, EEG with spike-wave complexes, Hypoplastic helices, Hypoplasia of the a... ORPHA:2203
7Q11.23 Microduplication Syndrome
Cryptorchidism, Aggressive behavior, Large earlobe, Overfolded helix, Low-set, posteriorly rotate... ORPHA:96121
Insensitivity To Pain, Congenital, With Anhidrosis
Self-mutilation, Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous s... OMIM:256800
Seckel Syndrome 1
Cryptorchidism, Abnormality of the pinna, Hypospadias, Hyperactivity, Clitoral hypertrophy OMIM:210600
Pediatric-Onset Graves Disease
Tremor, Goiter, Irritability, Hyperactivity, Mood swings ORPHA:525731
Brain-Lung-Thyroid Syndrome
Dystonia, Elevated circulating thyroid-stimulating hormone concentration, Ataxia, Sensorineural h... ORPHA:209905
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia, Sensorineural hearing impairment, Hyperactivity OMIM:609727
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Aggressive behavior, Abnormally folded helix, Emotional lability, Low frustration tolerance, Hype... OMIM:309520
Glass Syndrome
Hyperactivity, Aggressive behavior, Broad-based gait, Happy demeanor OMIM:612313
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Tremor, Akinesia, Depression, Gait disturbance, Blepharospasm, Ataxia, Bradykinesia, Hy... OMIM:234200
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Cryptorchidism, Conductive hearing impairment, Sensorineural hearing impairment, Hypoalbuminemia,... OMIM:235510
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Sensorineural hearing impairment, Ataxia, Hyperactivity ORPHA:760
Bone Marrow Failure Syndrome 3
Hyperactivity, Cryptorchidism, Hearing impairment, Cupped ear OMIM:617052
Koolen-De Vries Syndrome
Cryptorchidism, Overfolded helix, Macrotia, Impulsivity, Anxiety, Hyperactivity, Conspicuously ha... OMIM:610443
Familial Gestational Hyperthyroidism
Hand tremor, Goiter, Thyroid hyperplasia, Hyperactivity ORPHA:99819
Mucopolysaccharidosis, Type Iiia
Hearing impairment, Hyperactivity OMIM:252900
Acrodysostosis With Multiple Hormone Resistance
Cryptorchidism, Hypocalcemia, Pseudohypoparathyroidism, Hyperactivity, Hypospadias, Hypogonadism,... ORPHA:280651
Argininemia
Hyperargininemia, Spastic gait, Irritability, Hyperactivity, Hyperammonemia OMIM:207800
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hand tremor, Goiter, Thyroid hyperplasia, Hyperactivity ORPHA:424
Dyrk1A-Related Intellectual Disability Syndrome
Cryptorchidism, Breast hypoplasia, Macrotia, Gait disturbance, Anterior pituitary hypoplasia, Pro... ORPHA:464306
Smith-Lemli-Opitz Syndrome
Self-mutilation, Ambiguous genitalia, Cryptorchidism, Aggressive behavior, Bifid scrotum, Scrotal... OMIM:270400
Distal Monosomy 12Q
Self-mutilation, Maturity-onset diabetes of the young, Unilateral cryptorchidism, Bilateral condu... ORPHA:96149
Joubert Syndrome 1
Self-mutilation, Aggressive behavior, Ataxia, Hyperactivity, Optic disc pallor OMIM:213300
Hyperthyroidism, Nonautoimmune
Goiter, Thyroid hyperplasia, Hyperactivity OMIM:609152
Distal Trisomy 17Q
Cryptorchidism, Bilateral sensorineural hearing impairment, Low-set, posteriorly rotated ears, Pr... ORPHA:3379
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Cryptorchidism, Aggressive behavior, Conductive hearing impairment, Self-injurious behavior, Agor... ORPHA:353281
Mucopolysaccharidosis Type 3
Thickened helices, Abnormality of the middle ear ossicles, Disinhibition, Aggressive behavior, Hy... ORPHA:581
Cerebellar Ataxia, Nonprogressive, With Mental Retardation
Aggressive behavior, Ataxia, Unsteady gait, Protruding ear, Dysmetria, Hyperactivity, Short ear OMIM:614756
Witteveen-Kolk Syndrome
Conspicuously happy disposition, Cryptorchidism, Microphallus, Aggressive behavior, Macrotia, Cup... OMIM:613406
Coffin-Siris Syndrome
Cryptorchidism, Aggressive behavior, Hearing impairment, Hyperactivity, Hypospadias ORPHA:1465
Dubowitz Syndrome
Hyperactivity, Cryptorchidism, Protruding ear, Hypospadias OMIM:223370
Tuberous Sclerosis Complex
Parathyroid hyperplasia, Aggressive behavior, Depression, Pheochromocytoma, Self-injurious behavi... ORPHA:805
Histidinemia
Hyperhistidinemia, Hyperactivity ORPHA:2157
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Posteriorly rotated ears, Cryptorchidism, Attention deficit hyperactivity disorder, Hyperactivity OMIM:607721
Hereditary Sensory And Autonomic Neuropathy Type 4
Self-mutilation, Aplasia of the sweat glands, Orthostatic hypotension due to autonomic dysfunctio... ORPHA:642
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1
Cryptorchidism, Scrotal hypoplasia, Posteriorly rotated ears, Paroxysmal bursts of laughter, Sens... OMIM:309580
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Hypsarrhythmia, Protruding ear, Irritability, Hyperactivity ORPHA:447997
Nijmegen Breakage Syndrome
Hyperactivity, Premature ovarian insufficiency, Macrotia OMIM:251260
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hyperactivity, Optic nerve hypoplasia, Aplasia of the uterus, Aplasia of the vagina ORPHA:457284
Rubinstein-Taybi Syndrome 1
Self-mutilation, Cryptorchidism, Bifid uterus, Shawl scrotum, Agoraphobia, Aganglionic megacolon,... OMIM:180849
Brooks-Wisniewski-Brown syndrome
Posteriorly rotated ears, Cupped ear, Protruding ear, EEG abnormality, Hyperactivity, Optic atrophy OMIM:300612
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Cryptorchidism, Posteriorly rotated ears, Cupped ear, Hearing impairment, Protruding ear, Hyperac... OMIM:309590
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Cryptorchidism, Hydrocele testis, Aggressive behavior, Conductive hearing impairment, Self-injuri... ORPHA:353277
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Cryptorchidism, Hydrocele testis, Aggressive behavior, Conductive hearing impairment, Self-injuri... ORPHA:353284
Mucopolysaccharidosis Type 2
Otosclerosis, Aggressive behavior, Conductive hearing impairment, Papilledema, Impulsivity, Senso... ORPHA:580
Tetrasomy 9P
Cryptorchidism, Oligospermia, Inappropriate behavior, Hyperactivity, Absent gallbladder, Micropen... ORPHA:3310

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 Vti1a

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 Vti1a.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction. Nature communications (October 2017) Vti1atm1.1(KOMP)Vlcg PMC5638796

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MGI Allele Allele Type Produced
Vti1atm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells
Vti1atm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue

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