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Gene: Tuba3a MGI:1095406

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Gene Summary

Name:
tubulin, alpha 3A
Synonyms:
M[a]3,  Tuba3

Order Alleles

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
increased food intake Tuba3atm1b(KOMP)Wtsi HOM Early adult 8.70×10-05

Download data as:  TSV  XLS

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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 N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
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 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 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.

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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DSS Histology

Images

8 Images

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X-ray

XRay Images Skull Lateral Orientation

13 Images

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Anti-nuclear antibody assay

Images

6 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

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X-ray

XRay Images Forepaw

13 Images

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Eye Morphology

Images Slit Lamp

1 Images

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Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images
Tuba3atm1b(KOMP)Wtsi
HOM, Male, WTSI
Tuba3atm1b(KOMP)Wtsi
HOM, Male, WTSI
Tuba3atm1b(KOMP)Wtsi
HOM, Male, WTSI
Tuba3atm1b(KOMP)Wtsi
HOM, Male, WTSI
Tuba3atm1b(KOMP)Wtsi
HOM, Female, WTSI

View all 77 images

Tuba3atm1b(KOMP)Wtsi
tail, short tail, HOM, Female, WTSI
Tuba3atm1b(KOMP)Wtsi
head, HOM, Female, WTSI
Tuba3atm1b(KOMP)Wtsi
head, abnormal snout morphology, asymmetric snout, HOM, Female, WTSI
Tuba3atm1b(KOMP)Wtsi
abnormal tail tip morphology, HOM, Female, WTSI
Tuba3atm1b(KOMP)Wtsi
head, abnormal snout morphology, asymmetric snout, HOM, Female, WTSI
Tuba3atm1b(KOMP)Wtsi
fused cornea and lens, HOM, Male, WTSI

Human diseases caused by Tuba3a 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 Tuba3a by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Keratoconus 9
OMIM:617928

The table below shows human diseases predicted to be associated to Tuba3a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Bulimia Nervosa, Susceptibility To
Bulimia OMIM:607499
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Renal Glucosuria
Polydipsia, Polyphagia OMIM:233100
Pick Disease Of Brain
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition OMIM:172700
Body Mass Index Quantitative Trait Locus 20
Polyphagia OMIM:618406
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia OMIM:613886
Obesity And Hypopigmentation
Polyphagia OMIM:620195
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia OMIM:222100
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Aggressive behavior ORPHA:329249
Frontotemporal Dementia
Polyphagia, Disinhibition, Inappropriate laughter OMIM:600274
Intellectual Developmental Disorder, Autosomal Dominant 39
Polyphagia, Self-mutilation, Aggressive behavior OMIM:616521
Obesity Due To Melanocortin 4 Receptor Deficiency
Polyphagia ORPHA:71529
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... ORPHA:33543
Leptin Receptor Deficiency
Abnormal eating behavior, Polyphagia, Aggressive behavior OMIM:614963
Bardet-Biedl Syndrome 22
Polyphagia OMIM:617119
Leptin Deficiency Or Dysfunction
Polyphagia OMIM:614962
14Q11.2 Microduplication Syndrome
Polyphagia, Attention deficit hyperactivity disorder, Aggressive behavior ORPHA:261229
Huntington Disease
Aggressive behavior, Oral-pharyngeal dysphagia, Addictive alcohol use, Agitation, Compulsive beha... ORPHA:399
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Polyphagia OMIM:620085
Obesity Due To Sim1 Deficiency
Polyphagia, Attention deficit hyperactivity disorder ORPHA:369873
Hypotonia-Cystinuria Syndrome
Polyphagia ORPHA:163690
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Polyphagia, Inappropriate laughter ORPHA:411515
2Q23.1 Microdeletion Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Paroxysmal bu... ORPHA:228402
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia ORPHA:177910
Chromosome 22Q13 Duplication Syndrome
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity OMIM:615538
6Q16 Microdeletion Syndrome
Polyphagia, Abnormal temper tantrums ORPHA:171829
Body Mass Index Quantitative Trait Locus 19
Polyphagia OMIM:617885
Graves Disease, Susceptibility To, 1
Hyperactivity, Polyphagia OMIM:275000
Obesity Due To Prohormone Convertase I Deficiency
Polyphagia ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Polyphagia ORPHA:71526
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia OMIM:607485
Hyperinsulinism Due To Ucp2 Deficiency
Agitation, Polyphagia ORPHA:276556
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Agitation, Polyphagia ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Agitation, Polyphagia ORPHA:276580
Hyperinsulinism Due To Hnf1A Deficiency
Agitation, Polyphagia ORPHA:324575
Bardet-Biedl Syndrome 9
Polydipsia, Polyphagia OMIM:615986
Temple Syndrome
Polyphagia ORPHA:254516
Schaaf-Yang Syndrome
Skin-picking, Polyphagia, Impulsivity OMIM:615547
Cebalid Syndrome
Polyphagia OMIM:618774
Trisomy 18P
Polyphagia, Attention deficit hyperactivity disorder ORPHA:1715
Hypotonia-Cystinuria Syndrome
Polyphagia OMIM:606407
Man1B1-Cdg
Polyphagia ORPHA:397941
Angelman Syndrome
Hyperactivity, Aggressive behavior, Tongue thrusting, Self-injurious behavior, Inappropriate laug... ORPHA:72
Wagro Syndrome
Agitation, Polyphagia, Compulsive behaviors, Aggressive behavior OMIM:612469
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Polyphagia OMIM:609734
Luscan-Lumish Syndrome
Polyphagia, Aggressive behavior OMIM:616831
Intellectual Developmental Disorder, Autosomal Dominant 1
Aggressive behavior, Self-injurious behavior, Inappropriate laughter, Bruxism, Recurrent hand fla... OMIM:156200
Insulinoma
Polyphagia ORPHA:97279
Pediatric-Onset Graves Disease
Hyperactivity, Polydipsia, Polyphagia ORPHA:525731
Obesity Due To Congenital Leptin Deficiency
Polyphagia ORPHA:66628
Obesity Due To Leptin Receptor Gene Deficiency
Polyphagia ORPHA:179494
Chromosome Xq26.3 Duplication Syndrome
Polyphagia OMIM:300942
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Restlessness, Polyphagia, Self-mutilation, Aggressive behavior ORPHA:251028
Secondary Short Bowel Syndrome
Polyphagia ORPHA:95427
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Bulimia, Self-injurious behavior, Abnormal temper tantrums, Skin-picking, Obsessive-compulsive tr... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Bulimia, Self-injurious behavior, Abnormal temper tantrums, Skin-picking, Obsessive-compulsive tr... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Bulimia, Self-injurious behavior, Abnormal temper tantrums, Skin-picking, Obsessive-compulsive tr... ORPHA:177901
Magel2-Related Prader-Willi-Like Syndrome
Impulsivity, Abnormal temper tantrums, Compulsive behaviors, Skin-picking, Polyphagia ORPHA:398069
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Bulimia, Self-injurious behavior, Abnormal temper tantrums, Skin-picking, Polyphagia ORPHA:98754
Sim1-Related Prader-Willi-Like Syndrome
Skin-picking, Polyphagia, Abnormal temper tantrums ORPHA:398079
Paternal Uniparental Disomy Of Chromosome 1
Polyphagia ORPHA:251004
Gangliocytoma
Polyphagia ORPHA:251937
7Q11.23 Microduplication Syndrome
Hyperactivity, Collectionism, Aggressive behavior, Polyphagia, Self-injurious behavior, Abnormal ... ORPHA:96121
Adnp Syndrome
Aggressive behavior, Oral-pharyngeal dysphagia, Abnormal temper tantrums, Attention deficit hyper... ORPHA:404448
Prader-Willi Syndrome
Self-injurious behavior, Polyphagia, Attention deficit hyperactivity disorder OMIM:176270
Weaver Syndrome
Polyphagia OMIM:277590
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Bruxism, Compulsive behaviors, Dysphagia, Attentio... OMIM:615873
Prader-Willi Syndrome
Polyphagia, Attention deficit hyperactivity disorder ORPHA:739
X-Linked Acrogigantism
Polyphagia ORPHA:300373
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavior, Fixated inte... OMIM:620330
Pseudohypoparathyroidism Type 1C
Polyphagia ORPHA:79444
Craniopharyngioma
Polyphagia ORPHA:54595
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Polydipsia, Polyphagia ORPHA:293987
Pseudohypoparathyroidism Type 1A
Polyphagia ORPHA:79443
1P36 Deletion Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Polyphagia, Dysphagia ORPHA:1606
Chromosome 1P36 Deletion Syndrome, Distal
Aggressive behavior, Dysphagia, Polyphagia, Self-mutilation, Oppositional defiant disorder OMIM:607872
Lipodystrophy, Congenital Generalized, Type 1
Polyphagia OMIM:608594
Lipodystrophy, Congenital Generalized, Type 2
Polyphagia OMIM:269700
Alström Syndrome
Polyphagia ORPHA:64
Keratoconus 9
OMIM:617928

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 Tuba3a

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 Tuba3a.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Tuba3atm1b(KOMP)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Tuba3atm1b(KOMP)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Tuba3atm1b(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Tuba3atm1b(KOMP)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Tuba3atm1b(KOMP)Wtsi PMC5827107

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

MGI Allele Allele Type Produced
Tuba3atm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Tuba3atm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice

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