banner
Genes Phenotypes Help, News, Blog

Gene: Kif3b MGI:107688

Log in to follow

Gene Summary

Name:
kinesin family member 3B
Synonyms:
N/A

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 bone mineral content Kif3btm1b(EUCOMM)Wtsi HET Early adult 9.12×10-05
increased grip strength Kif3btm1b(EUCOMM)Wtsi HET Early adult 6.62×10-09
prenatal lethality prior to heart atrial septation Kif3btm1b(EUCOMM)Wtsi HOM   E15.5 0.00
preweaning lethality, complete penetrance Kif3btm1b(EUCOMM)Wtsi HOM   Early adult 0.00

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 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 100% (2 of 2)
Brainstem N/A heterozygote 100% (2 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 100% (2 of 2)
Cerebral cortex N/A heterozygote 100% (2 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 100% (2 of 2)
Hypothalamus N/A heterozygote 100% (2 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 100% (2 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 100% (2 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 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 100% (2 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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood vessel 0.0%
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
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 Forepaw

14 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

14 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

14 Images

View images
Download thumbnail Download
Anti-nuclear antibody assay

Images

6 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

View images
Download thumbnail Download
DSS Histology

Images

8 Images

View images
X-ray

XRay Images Skull Lateral Orientation

14 Images

View images
FCS thumbnail FCS
Ear epidermis immunophenotyping

Images

12 Images

View images
Legacy Phenotype Associated Images
Kif3btm1b(EUCOMM)Wtsi
HET, Male, WTSI
Kif3btm1b(EUCOMM)Wtsi
HET, Female, WTSI
Kif3btm1b(EUCOMM)Wtsi
HET, Male, WTSI
Kif3btm1b(EUCOMM)Wtsi
HET, Male, WTSI
Kif3btm1b(EUCOMM)Wtsi
HET, Male, WTSI

View all 100 images

Kif3btm1b(EUCOMM)Wtsi
TS20 heart, HET, Male, WTSI
Kif3btm1b(EUCOMM)Wtsi
TS20 heart, HET, Male, WTSI
Kif3btm1b(EUCOMM)Wtsi
TS20 chorioallantoic placenta, HET, Male, WTSI

Human diseases caused by Kif3b 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 Kif3b by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinitis Pigmentosa 89
Bicuspid aortic valve OMIM:618955

The table below shows human diseases predicted to be associated to Kif3b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Behavioral Variant Of Frontotemporal Dementia
Inappropriate behavior, Frontotemporal dementia, Aggressive behavior, Emotional blunting, Frontot... ORPHA:275864
Intellectual Developmental Disorder, Autosomal Recessive 37
Delayed speech and language development, Aggressive behavior, Microcephaly, Bruxism OMIM:615493
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Craniofacial Conodysplasia
Spinal cord compression, Hydrocephalus ORPHA:85168
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Delayed speech and language development, Aggressive behavior, Bruxism ORPHA:356996
Ossification Of The Posterior Longitudinal Ligament Of Spine
Spinal cord compression, Myelopathy OMIM:602475
Childhood Disintegrative Disorder
Abnormal emotion/affect behavior, Social and occupational deterioration, Impaired social interact... ORPHA:168782
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Foxg1 Syndrome
Paroxysmal bursts of laughter, Cognitive impairment, Impaired social interactions, Stereotypical ... ORPHA:561854
Glycosylphosphatidylinositol Biosynthesis Defect 17
Aggressive behavior, Dysplastic corpus callosum, Overfriendliness, Primary microcephaly OMIM:618010
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Anencephaly, Hypoplastic left heart, Ventricular septal defect ORPHA:2476
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Abnormal cerebral white matter morphology, Dysplastic corpus callosum, Mild malformation of corti... ORPHA:500166
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Thoraco-Abdominal Enteric Duplication
Meningocele, Dextrocardia, Abnormal tricuspid valve morphology, Diastomatomyelia ORPHA:1759
Frontal Encephalocele
Spina bifida, Hydrocephalus, Encephalocele ORPHA:1931
Intellectual Developmental Disorder, X-Linked 109
Aggressive behavior, Delayed speech and language development, Recurrent hand flapping, Microcepha... OMIM:309548
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Chudley-Mccullough Syndrome
Hypoplasia of the corpus callosum, Partial agenesis of the corpus callosum, Dysplastic corpus cal... OMIM:604213
Fraxe Intellectual Disability
Aggressive behavior, Delayed speech and language development, Recurrent hand flapping, Compulsive... ORPHA:100973
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida, Mitral valve prolapse OMIM:211960
Acalvaria
Spina bifida, Holoprosencephaly, Hydrocephalus ORPHA:945
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Aggressive behavior, Delayed speech and language development, Inappropriate laughter, Microcephal... OMIM:619150
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dysplastic corpus callosum, Microcephaly, Absent speech OMIM:618276
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Anencephaly, Hydrocephalus, Myelomeningocele OMIM:182940
Juvenile Neuronal Ceroid Lipofuscinosis
Cognitive impairment, Anxiety, Motor deterioration, Emotional lability, Dementia, Abnormal cerebr... ORPHA:79264
Spastic Paraplegia 45, Autosomal Recessive
Hypoplasia of the corpus callosum, Dysplastic corpus callosum OMIM:613162
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Self-injurious behavior, Stereotypical hand wringing, Absent speech, Inappropriate laughter, Micr... OMIM:614254
Christianson Syndrome
Cerebral cortical atrophy, Aplasia/Hypoplasia of the corpus callosum, Absent speech, Abnormal rep... ORPHA:85278
Late Infantile Neuronal Ceroid Lipofuscinosis
Aggressive behavior, Anxiety, Motor deterioration, Delayed speech and language development, Menta... ORPHA:168491
Mucolipidosis Iv
Cerebral dysmyelination, Absent speech, Progressive neurologic deterioration, Microcephaly, Dyspl... OMIM:252650
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Spinal dysraphism, Encephalocele, Ventricular septal defect, Anencephaly, Hydrocepha... ORPHA:1908
Caudal Duplication
Spina bifida, Spinal cord lesion, Myelomeningocele ORPHA:1756
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Lewy bodies, Frontotemporal dementia, Cerebral cortical atrophy, Lateral ventricle dilatation, Hy... OMIM:607485
Severe Intellectual Disability And Progressive Spastic Paraplegia
Abnormal periventricular white matter morphology, Cerebral cortical atrophy, Shyness, Abnormal re... ORPHA:280763
Chiari Malformation Type Ii
Myelomeningocele, Spina bifida, Hydrocephalus, Syringomyelia, Cervical myelopathy OMIM:207950
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Meckel Syndrome, Type 4
Meningocele, Encephalocele, Ventricular septal defect, Anencephaly, Hydrocephalus, Atrial septal ... OMIM:611134
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Anencephaly, Sirenomelia, Cervical spina bifida ORPHA:63260
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Aggressive behavior, Delayed speech and language development, Abnormal repetitive mannerisms, Abn... ORPHA:391307
Polymicrogyria With Optic Nerve Hypoplasia
Colpocephaly, Absent speech, Dysplastic corpus callosum, Agenesis of corpus callosum, Polymicrogyria ORPHA:250972
Bilateral Generalized Polymicrogyria
Self-injurious behavior, Lateral ventricle dilatation, Abnormal repetitive mannerisms, Microcepha... ORPHA:208447
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Paroxysmal bursts of laughter, Self-injurious behavior, Delayed speech and language development, ... OMIM:618718
4Q21 Microdeletion Syndrome
Delayed speech and language development, Abnormal repetitive mannerisms, Self-injurious behavior,... ORPHA:238750
Schisis Association
Spina bifida, Anencephaly, Encephalocele ORPHA:63862
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Aggressive behavior, Self-injurious behavior, Shyness, Impaired social interactions, Delayed spee... ORPHA:449291
Nevus Comedonicus Syndrome
Spina bifida, Spina bifida occulta ORPHA:64754
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Cognitive impairment, Echolalia, Emotional lability, Abnormal repetitive mannerisms, Microcephaly... ORPHA:927
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Delayed speech and language development, Abnormal repetitive mannerisms, Microcephaly, Depression... ORPHA:457240
Subependymal Nodular Heterotopia
Meningocele, Occipital encephalocele, Nasofrontal encephalocele, Myelomeningocele ORPHA:101030
Inverted Duplicated Chromosome 15 Syndrome
Aggressive behavior, Echolalia, Self-biting, Severe receptive language delay, Abnormal repetitive... ORPHA:3306
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Spina bifida, Bicuspid aortic valve, Abn... ORPHA:1120
Lissencephaly Due To Tuba1A Mutation
Perisylvian polymicrogyria, Agyria, Dysgenesis of the basal ganglia, Lissencephaly, Partial agene... ORPHA:171680
Autism Spectrum Disorder Due To Auts2 Deficiency
Delayed speech and language development, Repetitive compulsive behavior, Abnormal repetitive mann... ORPHA:352490
Isolated Klippel-Feil Syndrome
Spina bifida, Ventricular septal defect ORPHA:2345
Posterior Meningocele
Meningocele, Neural tube defect, Occipital meningocele, Hydromyelia, Hydrocephalus, Tethered cord... ORPHA:268810
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Lateral ventricle dilatation, Primary microcephaly, Simplified gyral pattern, Impaired social int... ORPHA:300570
Developmental And Speech Delay Due To Sox5 Deficiency
Aggressive behavior, Self-injurious behavior, Delayed speech and language development, Abnormal r... ORPHA:313892
2Q23.1 Microdeletion Syndrome
Paroxysmal bursts of laughter, Self-injurious behavior, Delayed speech and language development, ... ORPHA:228402
Intellectual Developmental Disorder, Autosomal Recessive 38
Aggressive behavior, Echolalia, Delayed speech and language development, Recurrent hand flapping,... OMIM:615516
X-Linked Intellectual Disability, Cantagrel Type
Hypoplasia of the corpus callosum, Abnormal repetitive mannerisms, Cerebral cortical atrophy, Abs... ORPHA:85277
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Macrocephaly-Developmental Delay Syndrome
Delayed speech and language development, Self-injurious behavior, Abnormal repetitive mannerisms,... ORPHA:397612
Wildervanck Syndrome
Meningocele ORPHA:3456
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Cognitive impairment, Suicidal ideation, Abnormal repetitive mannerisms, Depression, Anxiety ORPHA:98784
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplasia of the corpus callosum, Occipital cortical atrophy, Reduced eye contact, Abnormal repe... ORPHA:411986
Combined Oxidative Phosphorylation Deficiency 54
Secondary microcephaly, Dysplastic corpus callosum, Memory impairment, Periventricular white matt... OMIM:619737
Meckel Syndrome, Type 2
Meningocele, Anencephaly, Encephalocele, Intrauterine growth retardation OMIM:603194
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
5Q14.3 Microdeletion Syndrome
Hypoplasia of the corpus callosum, Delayed speech and language development, Frontal cortical atro... ORPHA:228384
Primary Dystonia, Dyt13 Type
Abnormal repetitive mannerisms ORPHA:98807
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cerebral cortical atrophy, Aggressive behavior, Lateral ventricle dilatation, Multifocal cerebral... ORPHA:488627
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Aggressive behavior, Lateral ventricle dilatation, Delayed speech and language development, Absen... ORPHA:457279
Humero-Radial Synostosis
Meningocele ORPHA:3265
Sacral Defect With Anterior Meningocele
Meningocele, Myelomeningocele, Hydromyelia, Hydrocephalus, Tethered cord, Myeloschisis, Dermal si... OMIM:600145
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Anxiety, Delayed speech and language development, Repetitive compulsive behavior, Speech articula... ORPHA:391372
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Abnormal periventricular white matter morphology, Delayed speech and language development, Perive... OMIM:616900
Czeizel-Losonci Syndrome
Myelomeningocele, Spina bifida, Hydrocephalus, Spina bifida occulta, Dextrocardia ORPHA:2437
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Paroxysmal bursts of laughter, Aggressive behavior, Echolalia, Thin corpus callosum, Delayed spee... OMIM:619580
Alazami Syndrome
Stereotypical hand wringing, Self-mutilation, Abnormal repetitive mannerisms, Anxiety ORPHA:319671
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Delayed speech and language development, Lissencephaly, Microcephaly, Dysplastic corpus callosum,... OMIM:614833
22Q11.2 Duplication Syndrome
Delayed speech and language development, Abnormal repetitive mannerisms, Compulsive behaviors, Mi... ORPHA:1727
Triploidy
Meningocele, Abnormal cardiac septum morphology, Hydrocephalus, Holoprosencephaly, Intrauterine g... ORPHA:3376
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Cerebral cortical atrophy, Self-injurious behavior, Severe expressive language delay, Primary mic... ORPHA:457351
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Abnormal spinal cord morphology, Hydrocephalus ORPHA:99947
Neurocutaneous Melanocytosis
Meningocele, Syringomyelia ORPHA:2481
Lateral Meningocele Syndrome
Meningocele, Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Hydrocep... OMIM:130720
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Microcephaly 26, Primary, Autosomal Dominant
Stereotypical hand wringing, Simplified gyral pattern, Delayed speech and language development, A... OMIM:619179
48,Xxyy Syndrome
Abnormal repetitive mannerisms, Depression, Anxiety ORPHA:10
Smith-Magenis Syndrome
Aplasia/Hypoplasia of the corpus callosum, Self-injurious behavior, Delayed speech and language d... ORPHA:819
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Abnormal periventricular white matter morphology, Absent speech, Abnormal repetitive mannerisms, ... ORPHA:500159
Foxg1 Syndrome Due To 14Q12 Microdeletion
Abnormal repetitive mannerisms, Microcephaly, Agenesis of corpus callosum, Absent speech ORPHA:261144
Cerebrocostomandibular Syndrome
Meningocele, Myelomeningocele, Ventricular septal defect, Spina bifida, Hydranencephaly, Intraute... ORPHA:1393
Camptodactyly Syndrome, Guadalajara Type 1
Spina bifida, Intrauterine growth retardation ORPHA:1327
Childhood Absence Epilepsy
Punding, Abnormal social behavior, Low self esteem, Depression, Anxiety ORPHA:64280
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Hostility, Repetitive compulsive behavior, Absent speech, Microcephaly, Depression, Anxiety, Bruxism OMIM:300260
Lamb-Shaffer Syndrome
Delayed speech and language development, Abnormal social behavior, Microcephaly, Abnormal repetit... ORPHA:530983
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Simplified gyral pattern, Dysplastic corpus callosum, Microcephaly, Absent speech OMIM:620001
Autosomal Recessive Spondylocostal Dysostosis
Meningocele, Spina bifida occulta, Anomalous pulmonary venous return, Intrauterine growth retarda... ORPHA:2311
Choreoacanthocytosis
Cerebral cortical atrophy, Hair-pulling, Abnormal putamen morphology, Lateral ventricle dilatatio... ORPHA:2388
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Exencephaly, Encephalocele ORPHA:2211
Lateral Meningocele Syndrome
Meningocele, Ventricular septal defect, Syringomyelia, Umbilical hernia, Dural ectasia ORPHA:2789
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Focal polymicrogyria, Head-banging, Partial agenesis of the corpus callosum, Microcephaly, Dyspla... OMIM:619103
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Dysplastic corpus callosum OMIM:601016
Intellectual Developmental Disorder, Autosomal Dominant 38
Aggressive behavior, Hair-pulling, Self-injurious behavior, Absent speech, Microcephaly, Cerebral... OMIM:616393
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Head-banging, Delayed speech and language development, Microcephaly, Hypoplasia of the corpus cal... OMIM:618569
Kleefstra Syndrome
Aggressive behavior, Cerebral cortical atrophy, Self-injurious behavior, Delayed speech and langu... ORPHA:261494
Rett Syndrome, Congenital Variant
Impaired social interactions, Simplified gyral pattern, Inappropriate crying, Absent speech, Prog... OMIM:613454
Iniencephaly
Spinal dysraphism, Encephalocele, Myelomeningocele, Spina bifida, Anencephaly, Hydrocephalus, Syr... ORPHA:63259
Prader-Willi Syndrome Due To Translocation
Cerebral cortical atrophy, Head-banging, Lateral ventricle dilatation, Impaired social interactio... ORPHA:177907
Joubert Syndrome 14
Meningocele, Hydrocephalus, Encephalocele, Ventricular septal defect OMIM:614424
Limb Body Wall Complex
Myelomeningocele, Encephalocele, Ventricular septal defect, Spina bifida, Short umbilical cord, A... ORPHA:2369
White-Sutton Syndrome
Aggressive behavior, Cerebral cortical atrophy, Subcortical cerebral atrophy, Self-injurious beha... ORPHA:468678
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Periventricular cysts, Aggressive behavior, Self-injurious behavior, Lateral ventricle dilatation... ORPHA:544488
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Microcephaly, Agenesis of corpus callosum, Colpocephaly OMIM:619955
Pontocerebellar Hypoplasia Type 2
Hypoplasia of the corpus callosum, Progressive microcephaly, Dysplastic corpus callosum, Abnormal... ORPHA:2524
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Arnold-Chiari Malformation Type Ii
Meningocele, Myelomeningocele, Aqueductal stenosis, Hydrocephalus, Syringomyelia ORPHA:1136
Even-Plus Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum OMIM:616854
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Aggressive behavior, Primary microcephaly, Absent speech, Compulsive behaviors, Abnormal repetiti... ORPHA:476126
Transketolase Deficiency
Self-injurious behavior, Delayed speech and language development, Abnormal repetitive mannerisms,... ORPHA:488618
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Thin corpus callosum, Abnormal repetitive mannerisms, Pachygyria, Abnormality of the anterior com... ORPHA:572013
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Abnormal spinal cord morphology ORPHA:139578
Wiedemann-Steiner Syndrome
Aggressive behavior, Delayed speech and language development, Psychomotor deterioration, Abnormal... ORPHA:319182
Fountain Syndrome
Spina bifida occulta, Spina bifida ORPHA:3219
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Primary microcephaly, Delayed speech and language development, Abnormal repetitive ... ORPHA:447997
Mitochondrial Complex I Deficiency, Nuclear Type 39
Dysplastic corpus callosum OMIM:620135
Mosaic Trisomy 9
Patent ductus arteriosus, Ventricular septal defect, Spina bifida, Abnormal heart valve morpholog... ORPHA:99776
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypoplasia of the frontal lobes, Abnormal periventricular white matter morphology, Self-injurious... ORPHA:468631
Keratoderma Hereditarium Mutilans
Abnormal spinal cord morphology ORPHA:494
Optic Atrophy-Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Repetitive compulsive behavior, Absent speech, Compulsive beha... ORPHA:401777
Amish Lethal Microcephaly
Spina bifida ORPHA:99742
Pelvis-Shoulder Dysplasia
Spina bifida, Hydranencephaly, Hydrocephalus ORPHA:2839
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Hemiballismus, Self-biting, Repetitive compulsive behavior, Absent speech, Abnormal repetitive ma... ORPHA:522077
3P25.3 Microdeletion Syndrome
Delayed speech and language development, Abnormal repetitive mannerisms, Cerebral white matter at... ORPHA:435638
Heterotaxy, Visceral, 1, X-Linked
Subvalvular aortic stenosis, Atrioventricular canal defect, Right atrial isomerism, Patent forame... OMIM:306955
Autosomal Recessive Cutis Laxa Type 2A
Primary microcephaly, Secondary microcephaly, Thick cerebral cortex, Pachygyria, Dysplastic corpu... ORPHA:357058
Proximal 16P11.2 Microdeletion Syndrome
Impaired social interactions, Delayed speech and language development, Moderate receptive languag... ORPHA:261197
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Dysplastic corpus callosum, Microcephaly OMIM:604273
Pagod Syndrome
Meningocele, Encephalocele, Spina bifida, Hypoplastic left heart, Situs inversus totalis ORPHA:991
Oculoskeletodental Syndrome
Dysplastic corpus callosum, Focal white matter lesions ORPHA:557003
Cerebrofacioarticular Syndrome
Self-injurious behavior, Microcephaly, Hypoplasia of the corpus callosum, Dysplastic corpus callo... ORPHA:314679
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele ORPHA:2031
Combined Oxidative Phosphorylation Deficiency 12
Leukoencephalopathy, Absent speech, Hypoplasia of the corpus callosum, Dysplastic corpus callosum... OMIM:614924
Neu-Laxova Syndrome 2
Spina bifida, Intrauterine growth retardation OMIM:616038
7Q11.23 Microduplication Syndrome
Aggressive behavior, Self-injurious behavior, Impaired social interactions, Simplified gyral patt... ORPHA:96121
Vacterl With Hydrocephalus
Aqueductal stenosis, Spina bifida, Arrhinencephaly, Hydrocephalus, Intrauterine growth retardation ORPHA:3412
Spinal Arteriovenous Metameric Syndrome
Abnormal spinal cord morphology, Spinal arteriovenous malformation ORPHA:53721
Trisomy 18
Ventricular septal defect, Spina bifida, Anencephaly, Atrial septal defect, Holoprosencephaly, In... ORPHA:3380
Rett Syndrome
Stereotypical hand wringing, Primary microcephaly, Abnormal repetitive mannerisms, Absent speech,... ORPHA:778
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Cerebral cortical atrophy, Primary microcephaly, Absent speech, Abnormal repetitive mannerisms, S... ORPHA:496641
Lumbar Syndrome
Spina bifida, Myelomeningocele ORPHA:83628
Acromelic Frontonasal Dysplasia
Meningocele, Encephalocele ORPHA:1827
X-Linked Cerebral Adrenoleukodystrophy
Abnormal spinal cord morphology, Myelopathy ORPHA:139396
Fibular Hemimelia
Spina bifida, Abnormal heart morphology ORPHA:93323
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Cerebral cortical atrophy, Delayed speech and language development, Absent speech, Abnormal repet... ORPHA:464311
Split Cord Malformation
Meningocele, Myelomeningocele, Hydromyelia, Hydrocephalus, Spinal cord tumor, Syringomyelia, Teth... ORPHA:573278
Solitary Bone Cyst
Abnormal spinal cord morphology ORPHA:83468
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear/anxiety-related behavior, Aggressive behavior, Social and occupational deterioratio... ORPHA:353281
Focal Dermal Hypoplasia
Patent ductus arteriosus, Ventricular septal defect, Abnormal cardiac septum morphology, Spina bi... ORPHA:2092
Combined Oxidative Phosphorylation Deficiency 53
Secondary microcephaly, Dysplastic corpus callosum OMIM:619423
2Q37 Microdeletion Syndrome
Microcephaly, Abnormal repetitive mannerisms, Compulsive behaviors ORPHA:1001
Kapur-Toriello Syndrome
Dysplastic corpus callosum, Pachygyria, Polymicrogyria ORPHA:2328
Dyrk1A-Related Intellectual Disability Syndrome
Cerebral cortical atrophy, Primary microcephaly, Delayed speech and language development, Abnorma... ORPHA:464306
Trisomy 20P
Spina bifida, Umbilical hernia ORPHA:261318
Basal Cell Nevus Syndrome 1
Spina bifida, Hydrocephalus, Cardiac fibroma, Cardiac rhabdomyoma OMIM:109400
Waardenburg Syndrome, Type 1
Spina bifida, Myelomeningocele OMIM:193500
Nmda Receptor Encephalitis
Memory impairment, Hypersexuality, Abnormal repetitive mannerisms, Depression, Anxiety, Language ... ORPHA:217253
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Delayed speech and language development, Dysplastic corpus callosum ORPHA:363444
Phakomatosis Pigmentokeratotica
Spina bifida ORPHA:2874
Non-Syndromic Anorectal Malformation
Tethered cord, Myelomeningocele, Syringomyelia ORPHA:557
Monosomy 22Q13.3
Delayed speech and language development, Bruxism, Hair-pulling, Agenesis of corpus callosum ORPHA:48652
Cloacal Exstrophy
Spina bifida, Myelomeningocele ORPHA:93929
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal fear/anxiety-related behavior, Aggressive behavior, Social and occupational deterioratio... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal fear/anxiety-related behavior, Aggressive behavior, Social and occupational deterioratio... ORPHA:353277
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Spina bifida, Atrioventricular canal defect, Tethered cord, Patent ductus arteriosus OMIM:619480
Vater/Vacterl Association
Patent ductus arteriosus, Ventricular septal defect, Spina bifida, Patent urachus, Tethered cord,... OMIM:192350
22Q11.2 Deletion Syndrome
Meningocele, Patent ductus arteriosus, Ventricular septal defect, Truncus arteriosus, Spina bifid... ORPHA:567
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Dysplastic corpus callosum OMIM:618810
Cystinosis
Abnormal repetitive mannerisms ORPHA:213
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Abnormal repetitive mannerisms ORPHA:529965
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Abnormal repetitive mannerisms, Absent speech, Microcephaly, Hypoplasia of the corpus callosum, N... ORPHA:508533
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Atrioventricular canal defect, Truncus arteriosus, Ventricular septal defect, Perimembranous vent... ORPHA:508498
Megalocornea-Intellectual Disability Syndrome
Microcephaly, Abnormal repetitive mannerisms ORPHA:2479
Neu-Laxova Syndrome 1
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Spina bifida, Short um... OMIM:256520
Thrombocytopenia-Absent Radius Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Ventricular septal defect, Spina bifida,... OMIM:274000
Nail-Patella Syndrome
Spina bifida OMIM:161200
Neu-Laxova Syndrome
Spina bifida, Intrauterine growth retardation ORPHA:2671
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Aggressive behavior, Cognitive impairment, Echolalia, Suicidal ideation, Impaired social interact... OMIM:619475
Orofaciodigital Syndrome Vi
Hypoplastic left heart, Arrhinencephaly, Occipital meningocele OMIM:277170
Trichotillomania
Hair-pulling OMIM:613229
Lathosterolosis
Meningocele, Intrauterine growth retardation ORPHA:46059
Fanconi Anemia
Patent ductus arteriosus, Abnormal cardiac septum morphology, Spina bifida, Hydrocephalus, Abnorm... ORPHA:84
Hydroxykynureninuria
Abnormal repetitive mannerisms ORPHA:79155
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele OMIM:601707
Tuberous Sclerosis Complex
Aggressive behavior, Self-injurious behavior, Anxiety, Repetitive compulsive behavior, Abnormal s... ORPHA:805
Jacobsen Syndrome
Ventricular septal defect, Spina bifida, Hypoplastic left heart, Aortic valve stenosis, Intrauter... ORPHA:2308
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Meningocele, Occipital encephalocele ORPHA:397715
Koolen-De Vries Syndrome Due To A Point Mutation
Ventricular septal defect, Spina bifida, Bicuspid aortic valve, Hydrocephalus, Atrial septal defe... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Ventricular septal defect, Spina bifida, Bicuspid aortic valve, Hydrocephalus, Atrial septal defe... ORPHA:363958
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Delayed speech and language development, Repetitive compulsive behavior, Absent speech, Abnormal ... ORPHA:513456
1P36 Deletion Syndrome
Cerebral cortical atrophy, Self-injurious behavior, Delayed speech and language development, Abse... ORPHA:1606
Mucopolysaccharidosis Type 2
Aggressive behavior, Cognitive impairment, Abnormal repetitive mannerisms, Progressive neurologic... ORPHA:580
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Abnormal spinal cord morphology ORPHA:88628
Mosaic Trisomy 20
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal spinal cord morphology, Dys... ORPHA:1724
White-Kernohan Syndrome
Dysplastic corpus callosum, Anxiety OMIM:619426
Neurofibromatosis, Type I
Spina bifida, Hydrocephalus, Aqueductal stenosis OMIM:162200
Hallermann-Streiff Syndrome
Spina bifida OMIM:234100
Marfan Syndrome
Meningocele, Mitral valve prolapse, Mitral valve calcification, Dural ectasia ORPHA:558
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Aggressive behavior, Shyness, Delayed speech and language development, Anxiety, Hypoplasia of the... ORPHA:466791
Dilated Cardiomyopathy With Ataxia
Bilateral basal ganglia lesions, Repetitive compulsive behavior ORPHA:66634
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Thick corpus callosum, Dysplastic corpus callosum, Delayed speech and language development, Aggre... OMIM:300967
Phocomelia, Schinzel Type
Meningocele, Intrauterine growth retardation ORPHA:2879
Acute Disseminated Encephalomyelitis
Abnormal spinal cord morphology, Myelitis ORPHA:83597
Adrenomyeloneuropathy
Abnormal spinal cord morphology, Dorsal column degeneration, Atrophy of the spinal cord ORPHA:139399
Campomelic Dysplasia
Spina bifida, Abnormal heart morphology, Spinal dysraphism, Hydrocephalus OMIM:114290
Tetrasomy 9P
Patent foramen ovale, Abnormal cardiac septum morphology, Abnormal mitral valve morphology, Abnor... ORPHA:3310
Rubinstein-Taybi Syndrome 1
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Perimembranous ventric... OMIM:180849
Holoprosencephaly 7
Hydrocephalus, Semilobar holoprosencephaly, Lobar holoprosencephaly, Alobar holoprosencephaly, Ho... OMIM:610828
Oculocerebrorenal Syndrome Of Lowe
Self-injurious behavior, Abnormal repetitive mannerisms, Compulsive behaviors, Depression, Anxiety ORPHA:534
Knobloch Syndrome 1
Spina bifida occulta, Occipital encephalocele, Occipital meningocele, Patent ductus arteriosus OMIM:267750
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
Aicardi Syndrome
Spina bifida OMIM:304050
Lenz-Majewski Hyperostotic Dwarfism
Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly, Dysplastic corpus callosum OMIM:151050
Genitourinary And/Or Brain Malformation Syndrome
Polymicrogyria, Secondary microcephaly, Absent septum pellucidum, Dysplastic corpus callosum, Age... OMIM:618820
Exstrophy-Epispadias Complex
Spina bifida, Hydrocephalus, Abnormal heart morphology ORPHA:322
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Lateral ventricle dilatation, Primary microcephaly, Bruxism, Happy demeanor, Absent speech, Abnor... ORPHA:261537
Witteveen-Kolk Syndrome
Aggressive behavior, Bilateral polymicrogyria, Delayed speech and language development, Conspicuo... OMIM:613406
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Lateral ventricle dilatation, Primary microcephaly, Bruxism, Happy demeanor, Absent speech, Abnor... ORPHA:261552
Zttk Syndrome
Abnormal cerebral white matter morphology, Periventricular leukomalacia, Dysplastic corpus callos... OMIM:617140
Mowat-Wilson Syndrome
Anxiety, Impaired social interactions, Bruxism, Happy demeanor, Abnormal repetitive mannerisms, A... ORPHA:2152
Otopalatodigital Syndrome, Type Ii
Spina bifida, Hydrocephalus, Atrial septal defect, Stillbirth, Umbilical hernia OMIM:304120
Norrie Disease
Cerebral cortical atrophy, Self-injurious behavior, Abnormal repetitive mannerisms, Microcephaly,... ORPHA:649
Amoebiasis Due To Free-Living Amoebae
Abnormal spinal cord morphology, Myocardial necrosis ORPHA:68
Arima Syndrome
Occipital meningocele OMIM:243910
Superficial Siderosis
Abnormal spinal cord morphology, Atrophy of the spinal cord ORPHA:247245
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Ischemic stroke, Lateral ventricle dilatation, Simplified gyral pattern, Periventricular leukomal... ORPHA:500150
Primary Sjögren Syndrome
Abnormal spinal cord morphology ORPHA:289390
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Occipital meningocele OMIM:276820
Retinitis Pigmentosa 89
Bicuspid aortic valve OMIM:618955

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 Kif3b

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 Kif3b.

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) Kif3btm1b(EUCOMM)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Kif3btm1b(EUCOMM)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Kif3btm1b(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Kif3btm1b(EUCOMM)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Kif3btm1b(EUCOMM)Wtsi PMC5827107

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
Kif3btm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Kif3btm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Kif3btm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice

The IMPC Newsletter

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

Subscribe to newsletter