Gene Summary

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

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
limb grasping Vti1atm1.1(KOMP)Vlcg HOM Early adult 5.75×10-06
abnormal testis morphology Vti1atm1.1(KOMP)Vlcg HOM Early adult 0.00
increased circulating alkaline phosphatase level Vti1atm1.1(KOMP)Vlcg HOM Early adult 1.36×10-08
increased vertical activity Vti1atm1.1(KOMP)Vlcg HOM   Early adult 1.21×10-05
hyperactivity Vti1atm1.1(KOMP)Vlcg HOM Early adult 4.62×10-20
enlarged epididymis Vti1atm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal epididymis morphology Vti1atm1.1(KOMP)Vlcg HOM Early adult 0.00
decreased thigmotaxis Vti1atm1.1(KOMP)Vlcg HOM Early adult 9.25×10-14
abnormal auditory brainstem response Vti1atm1.1(KOMP)Vlcg HOM   Early adult 3.73×10-06
decreased fasting circulating glucose level Vti1atm1.1(KOMP)Vlcg HOM Early adult 3.20×10-07
abnormal behavior Vti1atm1.1(KOMP)Vlcg HOM Early adult 9.46×10-14

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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 100% (2 of 2)
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 100% (2 of 2)
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 100% (2 of 2)
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 0.56% (3 of 534)
aorta 0.19% (1 of 540)
blood 0.0%
bone marrow 0.0%
brain 0.94% (5 of 533)
brainstem 0.38% (2 of 529)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 525)
cecum 4.65% (16 of 344)
cerebellum 0.55% (3 of 544)
cerebral cortex 0.38% (2 of 533)
chest bone Unavailable
colon 13.11% (16 of 122)
diaphragm 0.0%
duodenum 4.13% (5 of 121)
epididymis 14.18% (19 of 134)
esophagus 1.63% (6 of 369)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.83% (1 of 121)
heart 0.19% (1 of 522)
hindlimb 0.0%
hippocampus 0.37% (2 of 545)
hypothalamus 0.38% (2 of 532)
ileum 14.75% (18 of 122)
jejunum 8.59% (11 of 128)
kidney 4.79% (26 of 543)
large intestine 5.31% (28 of 527)
liver 0.0%
lower urinary tract 0.19% (1 of 529)
lung 0.37% (2 of 536)
lymph node 0.18% (1 of 544)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.35% (1 of 282)
midbrain 0.0%
olfactory lobe 0.37% (2 of 537)
ovary 0.18% (1 of 543)
oviduct 0.0%
pancreas 0.96% (5 of 520)
parathyroid gland 0.19% (1 of 529)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.37% (2 of 541)
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 1.86% (10 of 537)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.19% (1 of 533)
small intestine 5.01% (27 of 539)
spinal cord 0.55% (3 of 543)
spleen 0.38% (2 of 531)
stomach 3.77% (20 of 530)
stomach pyloric region 0.0%
striatum 0.37% (2 of 535)
sublingual gland 0.0%
submandibular gland 0.78% (1 of 128)
testis 1.13% (6 of 530)
thymus 0.19% (1 of 534)
thyroid gland 3.01% (16 of 532)
tongue 4.07% (5 of 123)
trachea 0.56% (3 of 535)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.38% (2 of 527)
vagina 0.0%
vas deferens 4.82% (17 of 353)
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 Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Hind Leg and Hip

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
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Abnormal fear/anxiety-related behavior, Hyperactivity, Resting tremor, Tremor, ... ORPHA:3077
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Hyperlysinemia, Type I
Hyperlysinemia, Hyperactivity OMIM:238700
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Low-set ears, EEG abnormality, Hyperactivity ORPHA:436151
Immunodeficiency 8
Hyperactivity OMIM:615401
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Hyperprolinemia, Type I
Ataxia, EEG abnormality, Hyperactivity, Hyperprolinemia, Aggressive behavior OMIM:239500
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity, Continuous spike and waves ... OMIM:301008
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Anxiety, Self-injurious behavior, Aggressive behavior OMIM:619031
Morm Syndrome
Hyperactivity, Aggressive behavior, Micropenis ORPHA:75858
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Self-injurious behavior, Hypsarrhythmia OMIM:619970
Developmental And Epileptic Encephalopathy 43
Ataxia, Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder, Hypsarrhythmia OMIM:617113
Landau-Kleffner Syndrome
EEG with frontal focal spikes, Impulsivity, Hyperactivity, Continuous spike and waves during slow... ORPHA:98818
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Ravine Syndrome
Ataxia, Abnormal auditory evoked potentials ORPHA:99852
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
8p23.1 deletion syndrome
Cryptorchidism, Hyperactivity DECIPHER:39
Mohr-Tranebjaerg Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... ORPHA:52368
Autosomal Recessive Non-Syndromic Intellectual Disability
Impulsivity, Hyperactivity, EEG with focal epileptiform discharges, Depression, EEG with generali... ORPHA:88616
Intellectual Developmental Disorder, X-Linked 104
Abnormal pinna morphology, Ataxia, Hyperactivity, Optic atrophy, Tremor, Aggressive behavior OMIM:300983
Lennox-Gastaut Syndrome
EEG abnormality, Hyperactivity, Falls, Aggressive behavior, EEG with focal sharp slow waves, Pers... ORPHA:2382
Glycine Encephalopathy
Impulsivity, Hyperactivity, Hyperglycinemia, Aggressive behavior, Irritability OMIM:605899
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Hyperactivity, Optic atrophy, Tremor, Aggressive behavior OMIM:619470
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Impulsivity, Aggressive behavior OMIM:604317
Phenylketonuria
Hyperactivity, Self-mutilation, Depression, Anxiety, Maternal hyperphenylalaninemia, Hyperphenyla... OMIM:261600
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Ataxia, Abnormal motor evoked potentials, Difficulty walking, A... ORPHA:320401
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Ataxia, Loss of ambulation, Decreased nerve condu... ORPHA:206443
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Hyperactivity, Tremor, Transient hyperphenylalaninemia, Choreoathetosis, Aggressive behav... OMIM:612716
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Hyperactivity, Dysmetria, Gait disturbance, Tremor OMIM:618090
Fraxe Intellectual Disability
Prominent ear helix, Hyperactivity, Impulsivity, Aggressive behavior ORPHA:100973
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Hyperactivity, Hypertriglyceridemia, Tremor, Dystonia OMIM:615924
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Choreoath... OMIM:617519
Mannosidosis, Beta A, Lysosomal
Hearing impairment, Hyperactivity, Aggressive behavior OMIM:248510
Cln5 Disease
EEG with focal spikes, Ataxia, Inability to walk, Hyperactivity, EEG with spike-wave complexes, D... ORPHA:228360
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, EEG abnormality, Self-injurious behavior, Hyperactivity, Tremor, Low-set ears,... OMIM:618718
Clcn4-Related X-Linked Intellectual Disability Syndrome
EEG with focal spikes, Self-injurious behavior, Progressive cerebellar ataxia, Hyperactivity, Dep... ORPHA:485350
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Anxiety, Gait ataxia, Aggressive behavior, Macrotia, Low-set ears, Posteriorly rot... OMIM:609425
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Optic atrophy, Gait disturbance, Abnormal auditory evoked potentials, Progressive sensori... OMIM:125250
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior OMIM:309548
Succinic Semialdehyde Dehydrogenase Deficiency
Ataxia, EEG abnormality, Self-injurious behavior, Hyperactivity, Anxiety, Elevated circulating ga... OMIM:271980
Juvenile Huntington Disease
Broad-based gait, Ataxia, Progressive cerebellar ataxia, Hyperactivity, Depression, Gait ataxia, ... ORPHA:248111
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Self-injurious behavior, Hyperactivity, Athetosis, Aggressive behavior, Dystonia ORPHA:382
Intellectual Developmental Disorder, X-Linked 21
Uplifted earlobe, Hyperactivity, Impulsivity, Macroorchidism OMIM:300143
Alazami-Yuan Syndrome
Cryptorchidism, Hyperactivity OMIM:617126
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Micropenis, Attention deficit hyperactivity disorder, Macrotia, Cryptorchidism OMIM:618504
Rasmussen Subacute Encephalitis
EEG with focal spikes, Inability to walk, Hyperactivity, Irritability, Continuous spike and waves... ORPHA:1929
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Broad-based gait, Precocious puberty, Hyperactivity, Aggressive behavior, Hearing impairment ORPHA:457260
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Hyperactivity, Macrotia OMIM:300928
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Abnormality of the uterus, Abn... ORPHA:1916
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Abnormal pinna morphology, Hyperactivity, Micropenis, Emotional lability, Hypospadias, Tremor, Ga... OMIM:300354
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Hyperactivity, Inappropriate behavior, EEG with generalized epileptiform... OMIM:619827
Charcot-Marie-Tooth Disease, Type 4D
Gait disturbance, Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evok... OMIM:601455
Coffin-Siris Syndrome 8
Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:618362
Fragile X Syndrome
Hyperactivity, Self-biting, Macroorchidism, postpubertal, Congenital macroorchidism, Macrotia OMIM:300624
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Happy demeanor, Ataxia, EEG abnormality, Hyperactivity, Inappropriate laughter ORPHA:411515
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity ORPHA:521258
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Hyperactivity, EEG abnormality, Impulsivity, Gait ataxia, Aggressive behavior,... ORPHA:500180
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Elevated circulating growth hormone concentration, Hyperactivity, Aggressive behavior, Macroorchi... ORPHA:85327
47,Xyy Syndrome
Increased circulating gonadotropin level, Impulsivity, Cryptorchidism, Hyperactivity, Micropenis,... ORPHA:8
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Anxiety, Abnormality of superior crus of antihelix, Prominent crus of helix, Atten... OMIM:301013
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Intellectual Developmental Disorder, Autosomal Dominant 67
Attention deficit hyperactivity disorder, Hyperactivity, Bipolar affective disorder OMIM:619927
Autosomal Dominant Optic Atrophy Plus Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Ataxia, Temporal optic dis... ORPHA:1215
Myoclonic-Astatic Epilepsy
Ataxia, Hyperactivity, EEG with focal spike waves, EEG with polyspike wave complexes, Abnormal em... ORPHA:1942
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity, EEG with polyspike wave complexes OMIM:617169
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Sensorineural hearing impairment, Congenital sensorineural hearing impairment, Hyperactivity, Ins... ORPHA:73272
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial nerve morphology, Diffi... OMIM:601596
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Self-injurious behavior, Depression, Anxiety, Aggressive behavior OMIM:619467
Inverted Duplicated Chromosome 15 Syndrome
Precocious puberty, Hyperactivity, Low-set, posteriorly rotated ears, Gonadal dysgenesis, Self-bi... ORPHA:3306
Intellectual Developmental Disorder, Autosomal Recessive 39
Anteverted ears, Hyperactivity, Aggressive behavior, Macrotia OMIM:615541
2Q23.1 Microdeletion Syndrome
Ataxia, Self-injurious behavior, Hypoplasia of penis, Hyperactivity, Cryptorchidism, Paroxysmal b... ORPHA:228402
Optic Atrophy 11
Facial diplegia, Ataxia, Hyperactivity, Dysmetria, Optic atrophy, Macrotia, Hearing impairment OMIM:617302
Cntnap2-Related Developmental And Epileptic Encephalopathy
EEG with focal spikes, Skin-picking, Ataxia, Precocious puberty, Hyperactivity, Self-mutilation, ... ORPHA:163681
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Broad-based gait, Precocious puberty, Hyperactivity, Aggressive behavior, Hearing impairment OMIM:300958
Adult-Onset Autosomal Dominant Leukodystrophy
Sensorineural hearing impairment, Ataxia, Action tremor, Abnormal autonomic nervous system physio... ORPHA:99027
Severe Neurodegenerative Syndrome With Lipodystrophy
Ataxia, Hyperinsulinemia, Hyperactivity, Hypertriglyceridemia, Tremor, Gait ataxia, Limb dystonia... ORPHA:363400
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Self-mutilation, Micropenis, Gait ataxia, Macrotia, Cryptorchidism, Microphallus, ... OMIM:300486
Late Infantile Neuronal Ceroid Lipofuscinosis
EEG with photoparoxysmal response, Ataxia, Inability to walk, Hyperactivity, EEG with spike-wave ... ORPHA:168491
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Anxiety, Impulsivity, Aggressive behavior ORPHA:101039
Acrodysostosis 2 With Or Without Hormone Resistance
Hypospadias, Cryptorchidism, Hyperactivity, Diabetes mellitus OMIM:614613
Stankiewicz-Isidor Syndrome
Low-set ears, Hyperactivity, Cryptorchidism, Micropenis, Hypospadias, Shawl scrotum, Hearing impa... OMIM:617516
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Ataxia, Increased blood urea nitrogen, Cryptorchidism, Optic... ORPHA:90321
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Self-mutilation OMIM:615516
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Absent brainstem auditory responses, Inability to walk, Decreas... ORPHA:101085
Myopathy With Extrapyramidal Signs
Extremely elevated creatine kinase, Ataxia, Hyperlysinemia, Hypervalinemia, Hyperactivity, Elevat... OMIM:615673
16P12.1P12.3 Triplication Syndrome
Large earlobe, Hyperactivity, Decreased response to growth hormone stimulation test, Anxiety, Nai... ORPHA:485405
Infantile Neuroaxonal Dystrophy
Ataxia, Impulsivity, Hyperactivity, Abnormal autonomic nervous system physiology, Optic atrophy, ... ORPHA:35069
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Absent brainstem auditory responses, Head titubatio... ORPHA:3240
Cri-Du-Chat Syndrome
Conspicuously happy disposition, Abnormal pinna morphology, Hyperactivity, Cryptorchidism, Self-m... OMIM:123450
Mend Syndrome
Low-set ears, Hyperactivity, Cryptorchidism OMIM:300960
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Sensorineural hearing impairment, Cryptorchidism, Hyperactivity, Aggressive behavior OMIM:615824
Mend Syndrome
Hyperactivity, Cryptorchidism, Elevated 8(9)-cholestenol, Aggressive behavior, Abnormal auditory ... ORPHA:401973
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
X-Linked Creatine Transporter Deficiency
Ataxia, Hyperactivity, Self-mutilation, Athetosis, Abnormal circulating creatine concentration, D... ORPHA:52503
13Q12.3 Microdeletion Syndrome
Hearing impairment, Hyperactivity, Cryptorchidism, Self-mutilation ORPHA:412035
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Optic atrophy, Hearing impairment, Hyperactivity, Aggressive behavior ORPHA:369939
Developmental And Epileptic Encephalopathy 103
Ataxia, Hyperactivity, Continuous spike and waves during slow sleep, EEG with polyspike wave comp... OMIM:619913
Cerebrotendinous Xanthomatosis
Cholelithiasis, Optic neuropathy, Ataxia, Abnormal motor evoked potentials, Decreased nerve condu... ORPHA:909
Intellectual Developmental Disorder, Autosomal Dominant 7
Happy demeanor, Abnormal pinna morphology, Ataxia, Hyperactivity, Gait disturbance, Macrotia, Ina... OMIM:614104
Abcd Syndrome
Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok... OMIM:600501
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ataxia, EEG abnormality, Hyperactivity, Cryptorchidism, Hearing impairment, Aggressive behavior, ... ORPHA:369891
Intellectual Developmental Disorder, Autosomal Dominant 52
Sensorineural hearing impairment, Hyperactivity, Cryptorchidism, Anxiety, Asymmetry of the ears, ... OMIM:617796
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Goiter, Hyperactivity, Irritability OMIM:275000
Adenylosuccinase Deficiency
Happy demeanor, Inability to walk, Hyperactivity, Opisthotonus, Self-mutilation, Gait ataxia, Agg... OMIM:103050
19P13.3 Microduplication Syndrome
Precocious puberty, Self-injurious behavior, Hyperactivity, Microtia, Unilateral cryptorchidism, ... ORPHA:447980
Intellectual Developmental Disorder, Autosomal Dominant 43
Ataxia, Impulsivity, Hyperactivity, Microtia, Attached earlobe, Anxiety, Aggressive behavior, Dys... OMIM:616977
Arthrogryposis, Distal, Type 2A
Hearing impairment, Cryptorchidism, Abnormal auditory evoked potentials OMIM:193700
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypomagnesemia, Hypokalemia, Hyperactivity, Self-biting OMIM:618314
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Optic disc pallor, Ataxia, Abnormal auditory evoked potentials OMIM:619260
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Happy demeanor, Ataxia, EEG abnormality, Broad-based gait, Hyperactivity, EEG wit... ORPHA:98794
Adult Krabbe Disease
Broad-based gait, Ataxia, EEG abnormality, Gait disturbance, Prolonged brainstem auditory evoked ... ORPHA:206448
X-Linked Intellectual Disability, Cabezas Type
Broad-based gait, EEG abnormality, Hyperactivity, Hypoplasia of penis, Tremor, Aggressive behavio... ORPHA:85293
Intellectual Developmental Disorder, Autosomal Dominant 45
Neonatal hypoglycemia, Anxiety, Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Hyperactivity, Depression, Anxiety, Attention deficit hyperactivity diso... ORPHA:449291
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potentials OMIM:201050
Renal Cysts And Diabetes Syndrome
Glucose intolerance, Hypoplasia of the uterus, Atretic vas deferens, Bicornuate uterus, Maturity-... OMIM:137920
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Hypernatremia, Hypoalbuminemia, Abnormal auditory evoked potent... ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Hypernatremia, Hypoalbuminemia, Abnormal auditory evoked potent... ORPHA:529799
Chromosome 10Q26 Deletion Syndrome
Sensorineural hearing impairment, Broad-based gait, Protruding ear, Hyperactivity, Cryptorchidism... OMIM:609625
19P13.12 Microdeletion Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Hyperlipidemia, Self-injurious b... ORPHA:254346
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Short-segment aganglionic megacolon, Absent brainstem auditory responses, Hypoplasia of the semic... OMIM:609136
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Hyperactivity, Hypoproteinemia, Decreased HDL cholesterol c... ORPHA:247585
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Hyperactivity, Hypospadias, Gait disturbance, Neonatal hypoglycemia, Cryptorchidism ORPHA:457485
Gomez-Lopez-Hernandez Syndrome
Ataxia, Self-injurious behavior, Hyperactivity, Decreased response to growth hormone stimulation ... OMIM:601853
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
X-Linked Adrenoleukodystrophy
Inappropriate sexual behavior, Hyperactivity, Progressive hearing impairment, Gait disturbance, D... ORPHA:43
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Hyperactivity, Self-mutilation, Optic nerve hypoplasia, Hypospadias, Inappropriate laughter, Low ... ORPHA:363686
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cholelithiasis, Protruding ear, Hyperactivity, Micropenis, Shuffling gait, Aggressive behavior, D... OMIM:300534
Infantile Krabbe Disease
Decreased nerve conduction velocity, Irritability, Inappropriate crying, Opisthotonus, Optic atro... ORPHA:206436
Angelman Syndrome
Broad-based gait, Happy demeanor, Precocious puberty in females, EEG abnormality, Self-injurious ... ORPHA:72
Pitt-Hopkins-Like Syndrome 1
Ataxia, EEG abnormality, Hyperactivity, Aggressive behavior OMIM:610042
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, Hypsarrhythmia, EEG with burst suppression OMIM:619239
Mogs-Cdg
Sensorineural hearing impairment, Absent brainstem auditory responses, Hydrocele testis, External... ORPHA:79330
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Impulsivity, Dysmetria, Intention tremor, Dysdiadochokinesis, Optic atrophy, Gait ... OMIM:610217
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Abnormally folded helix, Hyperactivity, Macroorchidism, Aggressive behavior, Emotional lability, ... OMIM:309520
Cockayne Syndrome A
Sensorineural hearing impairment, Abnormal pinna morphology, Ataxia, Decreased nerve conduction v... OMIM:216400
Von Hippel-Lindau Syndrome
Sensorineural hearing impairment, Neoplasm of the pancreas, Papillary cystadenoma of the epididym... OMIM:193300
Angelman Syndrome
Broad-based gait, EEG abnormality, Hyperactivity, Progressive gait ataxia, Limb tremor, Paroxysma... OMIM:105830
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Abnormal pinna morphology, Hyperactivity, Hypoplastic nipples, Macrotia, Cryptorchidism OMIM:618505
Early Infantile Epileptic Encephalopathy
EEG abnormality, Self-injurious behavior, EEG with spike-wave complexes, Precocious puberty, Micr... ORPHA:1934
X-Linked Cerebral Adrenoleukodystrophy
Ataxia, Inability to walk, Hyperactivity, Abnormal circulating fatty-acid concentration, Dysmetri... ORPHA:139396
Cockayne Syndrome B
Sensorineural hearing impairment, Abnormal pinna morphology, Ataxia, Decreased nerve conduction v... OMIM:133540
Floating-Harbor Syndrome
Broad-based gait, Conductive hearing impairment, Cochlear malformation, Impulsivity, Precocious p... ORPHA:2044
Choreoacanthocytosis
Laryngeal dystonia, Falls, Limb dystonia, Emotional lability, Loss of ambulation, Self-injurious ... ORPHA:2388
Intellectual Developmental Disorder, Autosomal Dominant 29
Low-set ears, Self-injurious behavior, Cryptorchidism, Hyperactivity, Anxiety, Attention deficit ... OMIM:616078
Trisomy 10P
EEG with focal spikes, Low voltage EEG, EEG with burst suppression, Absent gallbladder, Abnormal ... ORPHA:171929
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia, Sensorineural hearing impairment, Hyperactivity OMIM:609727
Legius Syndrome
Ovarian neoplasm, Hyperactivity, Male urethral meatus stenosis, Vestibular schwannoma, Attention ... ORPHA:137605
Insensitivity To Pain, Congenital, With Anhidrosis
Hyperactivity, Abnormal autonomic nervous system physiology, Self-mutilation, Postural hypotensio... OMIM:256800
Brain-Lung-Thyroid Syndrome
Sensorineural hearing impairment, Hypoparathyroidism, Ataxia, Hyperactivity, Thyroid dysgenesis, ... ORPHA:209905
Hyperlysinemia
Hyperlysinemia, Hyperactivity, EEG with spike-wave complexes, Dysmetria, Hyperammonemia, Tip-toe ... ORPHA:2203
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Papilledema, Papillary cystadenoma of the epididymis, Anxiety, Adrenal ... ORPHA:892
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Cryptorchidism, Attention deficit hyperactivity disorder, Low-set ears, Posteriorl... OMIM:614294
Argininemia
Hyperactivity, Hyperammonemia, Hyperargininemia, Spastic gait, Irritability OMIM:207800
Familial Gestational Hyperthyroidism
Goiter, Hyperactivity, Thyroid hyperplasia, Hand tremor ORPHA:99819
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Goiter, Hyperactivity, Thyroid hyperplasia, Hand tremor ORPHA:424
Hyperthyroidism, Nonautoimmune
Goiter, Hyperactivity, Thyroid hyperplasia OMIM:609152
Floating-Harbor Syndrome
Conductive hearing impairment, Epididymal cyst, Cryptorchidism, Hypospadias, Glandular hypospadia... OMIM:136140
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Hyperactivity, Pseudohypoparathyroidism, Decreased response to growth hormone stimu... ORPHA:280651
Neurodegeneration With Brain Iron Accumulation 1
Akinesia, Ataxia, Hyperactivity, Blepharospasm, Depression, Optic atrophy, Gait disturbance, Trem... OMIM:234200
Microcephaly 29, Primary, Autosomal Recessive
Ataxia, Hyperactivity, Emotional lability OMIM:620047
Histidinemia
Hyperhistidinemia, Hyperactivity ORPHA:2157
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Sensorineural hearing impairment, Conductive hearing impairment, Agoraphobia, EEG abnormality, Im... ORPHA:353281
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Protruding ear, Hyperactivity, Irritability, Hypsarrhythmia, Low-set ears, Hair-pulling ORPHA:447997
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Broad-based gait, Protruding ear, Ataxia, Hyperactivity, Dysmetria, Hand tremor, Gait ataxia, Sho... OMIM:614756
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Sensorineural hearing impairment, Hyperactivity, Cryptorchidism, Microtia, Micropenis, Hypospadia... OMIM:309580

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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

This service may be affected by the Covid-19 pandemic. See how

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter