Gene Summary

Name:
kinesin family member 26B
Synonyms:
N-11 kinesin,  D230039L06Rik

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
decreased circulating triglyceride level Kif26btm2b(KOMP)Wtsi HET   Early adult 4.94×10-05
increased heart weight Kif26btm2b(KOMP)Wtsi HET Early adult 1.30×10-05
preweaning lethality, complete penetrance Kif26btm2b(KOMP)Wtsi HOM   Early adult 0.00
decreased circulating free fatty acids level Kif26btm2b(KOMP)Wtsi HET Early adult 1.92×10-06
hyperactivity Kif26btm2b(KOMP)Wtsi HET Early adult 1.17×10-05

Download data as:  TSV  XLS

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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
Aorta  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  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)
Peripheral nervous system  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 50% (1 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vascular system  Section images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
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)
Pancreas 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 Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thalamus N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote 100% (1 of 1)
Brain N/A heterozygote 100% (2 of 2)
Brain N/A homozygote 100% (1 of 1)
Dorsal root ganglion N/A heterozygote Ambiguous
N/A Ambiguous
Ear N/A heterozygote 100% (2 of 2)
Ear N/A homozygote 100% (1 of 1)
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote 100% (1 of 1)
Footplate N/A heterozygote 100% (2 of 2)
Footplate N/A homozygote 100% (1 of 1)
Forebrain N/A heterozygote 100% (2 of 2)
Forebrain N/A homozygote 100% (1 of 1)
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote 100% (1 of 1)
Fronto-nasal process N/A heterozygote Ambiguous
N/A Ambiguous
Handplate N/A heterozygote 100% (2 of 2)
Handplate N/A homozygote 100% (1 of 1)
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote 100% (1 of 1)
Heart N/A heterozygote 100% (2 of 2)
Heart N/A homozygote 100% (1 of 1)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote 100% (1 of 1)
Hindlimb N/A heterozygote 100% (2 of 2)
Hindlimb N/A homozygote 100% (1 of 1)
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote Ambiguous
Lung N/A homozygote 100% (1 of 1)
Mandibular process N/A heterozygote 100% (2 of 2)
Mandibular process N/A homozygote 100% (1 of 1)
Maxillary process N/A heterozygote 100% (2 of 2)
Maxillary process N/A homozygote 100% (1 of 1)
Midbrain N/A heterozygote 100% (2 of 2)
Midbrain N/A homozygote 100% (1 of 1)
Nose N/A heterozygote 100% (1 of 1)
N/A Ambiguous
Oral cavity N/A heterozygote 50% (1 of 2)
Oral cavity N/A homozygote 100% (1 of 1)
Skin N/A heterozygote 100% (2 of 2)
Skin N/A homozygote 0.0% (0 of 1)
Spinal cord N/A heterozygote 100% (1 of 1)
N/A Ambiguous
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote 100% (1 of 1)
Tail N/A heterozygote 100% (2 of 2)
Tail N/A homozygote 100% (1 of 1)

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)
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
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%
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)
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)
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)
striatum 0.51% (3 of 584)
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thalamus 0.0%
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
urinary bladder 0.0%
uterus 0.0%
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 507)
dorsal root ganglion 1.69% (1 of 59)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
fronto-nasal process 1.67% (1 of 60)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nose 1.3% (1 of 77)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

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

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

Adult LacZ

LacZ Images Section

28 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

Embryo LacZ

LacZ images wholemount

12 Images

Combined SHIRPA and Dysmorphology

Images

3 Images

Eye Morphology

Images Slit Lamp

1 Images

Human diseases caused by Kif26b 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 Kif26b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Neurofaciodigitorenal Syndrome
Unilateral renal agenesis OMIM:256690
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Unilateral renal agenesis OMIM:235740
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bilateral renal agenesis, Ureteral atresia, Unilateral renal agenesis, Death in infancy OMIM:618845
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Pyknoachondrogenesis
Stillbirth OMIM:265880
Renal Hypoplasia
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... ORPHA:93101
Immunodeficiency 8
Hyperactivity OMIM:615401
Radial-Renal Syndrome
Unilateral renal agenesis, Ectopic kidney OMIM:179280
Autosomal Recessive Primary Microcephaly
Vesicoureteral reflux, Unilateral renal agenesis ORPHA:2512
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Hydroneph... OMIM:617805
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Unilateral renal agenesis OMIM:206750
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s... OMIM:616002
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis OMIM:601355
Thymic Aplasia With Fetal Death
Renal agenesis, Stillbirth, Ureteral agenesis OMIM:274210
Ethanolaminosis
Cardiomegaly OMIM:227150
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Renal agenesis, Unilateral renal agenesis, Ectopic kidney OMIM:601076
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Holzgreve Syndrome
Renal hypoplasia, Renal agenesis OMIM:236110
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Micropenis, Unilateral renal agenesis OMIM:244200
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Ataxia, Hepatomegaly, Hypertriglyceridemia, Hyperactivity OMIM:615924
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
8p23.1 deletion syndrome
Atrioventricular canal defect, Atrial septal defect, Hyperactivity, Abnormal heart morphology DECIPHER:39
Bladder Exstrophy And Epispadias Complex
Horseshoe kidney, Hydroureter, Unilateral renal agenesis, Bladder exstrophy, Epispadias OMIM:600057
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Unilateral renal agenesis ORPHA:281090
Bardet-Biedl Syndrome 16
Renal agenesis, Renal dysplasia, Renal cyst, Renal insufficiency, Abnormality of the kidney OMIM:615993
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity OMIM:616657
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Hydroureter, Renal sarcoma, Mult... OMIM:143400
Oligomeganephronia
Decreased numbers of nephrons, Unilateral renal agenesis, Abnormality of medullary pyramid morpho... ORPHA:2260
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Mayer-Rokitansky-Küster-Hauser Syndrome
Abnormality of the kidney, Horseshoe kidney, Ectopic kidney, Unilateral renal agenesis ORPHA:3109
Renal Agenesis
Renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Unilateral renal age... ORPHA:411709
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Micropenis, Unilateral renal agenesis OMIM:618142
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal tubular ... OMIM:613092
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Unilateral renal agenesis OMIM:608406
Thymic-Renal-Anal-Lung Dysplasia
Renal agenesis, Ureteral dysgenesis, Ureteral agenesis OMIM:274265
Braddock Syndrome
Unilateral renal agenesis ORPHA:52047
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Cutis Laxa, Autosomal Dominant 3
Unilateral renal agenesis OMIM:616603
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal hypoplasia, Neonatal death, Renal cyst OMIM:228940
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Ehlers-Danlos Syndrome, Classic-Like
Vesicoureteral reflux, Unilateral renal agenesis OMIM:606408
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis OMIM:158330
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Reduced renal corticomedullary differentiatio... OMIM:611555
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Horseshoe kidney, Renal agenesis, Bifid ureter, Decreased numbers of nephrons, Renal hypoplasia, ... OMIM:617641
Immunoneurologic Disorder, X-Linked
Functional abnormality of the bladder, Neonatal death OMIM:300076
Inverted Duplicated Chromosome 15 Syndrome
Unilateral renal agenesis ORPHA:3306
Klippel-Feil Syndrome 1, Autosomal Dominant
Unilateral renal agenesis, Abnormality of the kidney OMIM:118100
Congenital Disorder Of Glycosylation, Type Iil
Proximal tubulopathy, Unilateral renal agenesis, Death in infancy, Hyperechogenic kidneys OMIM:614576
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Unilateral renal agenesis ORPHA:1064
Williams-Beuren Region Duplication Syndrome
Unilateral renal agenesis, Hydronephrosis OMIM:609757
Coach Syndrome 1
Nephronophthisis, Unilateral renal agenesis, Renal cyst, Stage 5 chronic kidney disease, Multiple... OMIM:216360
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Horseshoe kidney, Unilateral renal agenesis, Recurrent urinary tract infections, Hypospadias, Mic... ORPHA:363444
Renal Cysts And Diabetes Syndrome
Abnormality of the kidney, Abnormal renal morphology, Multiple glomerular cysts, Decreased number... OMIM:137920
Sotos Syndrome 3
Hyperactivity OMIM:617169
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Kallmann Syndrome With Spastic Paraplegia
Micropenis, Unilateral renal agenesis OMIM:308750
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death OMIM:301021
Cenani-Lenz Syndactyly Syndrome
Renal hypoplasia, Renal agenesis OMIM:212780
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Stillbirth, Renal hypoplasia, Renal dysplasia, Neonatal death, Renal cyst, Ureteral agenesis OMIM:236500
Schizophrenia 1
Renal agenesis, Partially duplicated kidney, Ectopic kidney OMIM:181510
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Micropenis, Unilateral renal agenesis OMIM:308700
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Renal agenesis, Unilateral renal agenesis OMIM:619227
Emanuel Syndrome
Renal hypoplasia, Micropenis, Unilateral renal agenesis ORPHA:96170
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Unilateral renal agenesis OMIM:618419
Nager Syndrome
Unilateral renal agenesis ORPHA:245
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Renal dysplasia, Unilateral renal agenesis, Multicystic kidney dysplasia OMIM:308205
Short Stature, Microcephaly, And Endocrine Dysfunction
Renal hypoplasia, Micropenis, Ectopic kidney, Unilateral renal agenesis OMIM:616541
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Renal dysplasia, Vesicoureteral reflux, Hydronephrosis, Polycystic kid... ORPHA:2237
Methylmalonic Acidemia With Homocystinuria Type Cblf
Methylmalonic aciduria, Unilateral renal agenesis ORPHA:79284
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Renal dysplasia, Renal agenesis, Ectopic kidney ORPHA:2578
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Renal hypoplasia, Unilateral renal agenesis, Recurrent urinary tract i... OMIM:614527
Microgastria-Limb Reduction Defects Association
Horseshoe kidney, Cystic renal dysplasia, Unilateral renal agenesis, Pelvic kidney OMIM:156810
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Takenouchi-Kosaki Syndrome
Hypospadias, Unilateral renal agenesis, Hydronephrosis OMIM:616737
Juvenile Huntington Disease
Dystonia, Gait ataxia, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Hyperactivity, Broad-... ORPHA:248111
Arthrogryposis Multiplex Congenita 6
Hypospadias, Neonatal death, Death in infancy, Death in childhood OMIM:619334
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Mild proteinuria, Stage 5 chronic kidney disease OMIM:614377
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Hyperprolinemia, Type I
Ataxia, Hyperactivity OMIM:239500
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Tubulointerstitial fibrosis, Enlarged kidney, Neonatal death, Absence of renal corticomedullary d... OMIM:263200
Acrorenal Syndrome, Autosomal Recessive
Renal hypoplasia, Renal insufficiency, Decreased numbers of nephrons OMIM:201310
Glycine Encephalopathy
Lethargy, Hyperactivity OMIM:605899
Bresek Syndrome
Hypoplasia of the bladder, Renal hypoplasia, Renal dysplasia, Neonatal death, Vesicoureteral reflux ORPHA:85284
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Unilateral renal agenesis, Renal cyst, Hydronephrosis, Pelvic kidney, Hypospadias, Micropenis ORPHA:464311
Acrodysostosis 1 With Or Without Hormone Resistance
Unilateral renal agenesis OMIM:101800
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Hyperactivity OMIM:300983
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Recurrent urinary tract infections, Unilateral renal agenesis ORPHA:221139
Verheij Syndrome
Renal hypoplasia, Renal agenesis, Renal cyst OMIM:615583
Dyrk1A-Related Intellectual Disability Syndrome
Unilateral renal agenesis, Renal cyst, Hydronephrosis, Pelvic kidney, Hypospadias, Micropenis ORPHA:464306
7Q11.23 Microduplication Syndrome
Hypospadias, Unilateral renal agenesis, Enuresis, Hydronephrosis ORPHA:96121
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Lacticaciduria, Elevated urinary 4-hydroxybutyric acid OMIM:619003
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hyperactivity OMIM:274270
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Ventriculomegaly With Defects Of The Radius And Kidney
Renal agenesis, Ureteral duplication, Horseshoe kidney, Ectopic kidney OMIM:602200
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death OMIM:601612
Cockayne Syndrome Type 3
Neurogenic bladder, Hydroureter, Renal hypoplasia, Unilateral renal agenesis, Urinary retention, ... ORPHA:90324
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Ataxia, Hepatomegaly, Hypertriglyceridemia, Limb dystonia, Hyperactivity ORPHA:363400
Neurofaciodigitorenal Syndrome
Unilateral renal agenesis ORPHA:2673
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Lethargy, Cardiomegaly, Transient hyperlipidemia OMIM:255120
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Microphallus, Abnormal renal collecting system morphology, Unilateral renal agenesis, Pelvic kidn... ORPHA:468631
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Renal hypoplasia, Glomerular sclerosis, Renal salt wasting, Decrease... OMIM:174000
Fraxe Intellectual Disability
Hyperactivity ORPHA:100973
Penoscrotal Transposition
Renal agenesis, Penoscrotal transposition, Abnormality of the ureter, Renal dysplasia, Abnormalit... ORPHA:2842
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Myoglobinuria OMIM:602199
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Stillbirth, Abnormality of the urinary system, Unilateral renal agenesis, Vesicoureteral reflux, ... ORPHA:95699
Smith-Lemli-Opitz Syndrome
Renal agenesis, Renal hypoplasia, Unilateral renal agenesis, Ureteropelvic junction obstruction, ... OMIM:270400
Mental Retardation, Autosomal Dominant 43
Hyperactivity OMIM:616977
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Bilateral renal agenesis, Unilateral renal agenesis, Hydroureter OMIM:619194
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Mental Retardation, Autosomal Recessive 39
Hyperactivity OMIM:615541
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Vacterl Association With Hydrocephalus
Renal hypoplasia, Stillbirth OMIM:276950
Acrofacial Dysostosis 1, Nager Type
Unilateral renal agenesis OMIM:154400
Leopard Syndrome 1
Hypospadias, Micropenis, Unilateral renal agenesis OMIM:151100
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Hyperactivity OMIM:609425
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Unilateral renal agenesis ORPHA:457284
Xq25 Microduplication Syndrome
Hyperactivity ORPHA:521258
Xq25 Duplication Syndrome
Hyperactivity OMIM:300979
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder, Ventricular septal defect OMIM:618504
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Renal ins... ORPHA:1475
Renal And Mullerian Duct Hypoplasia
Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus OMIM:266810
Chromosome 15Q25 Deletion Syndrome
Dextrocardia, Abnormal cardiac septum morphology, Attention deficit hyperactivity disorder, Hyper... OMIM:614294
Lennox-Gastaut Syndrome
Falls, Hyperactivity ORPHA:2382
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Ataxia, Hyperactivity OMIM:612716
Cockayne Syndrome
Abnormal renal physiology, Neurogenic bladder, Renal hypoplasia, Unilateral renal agenesis, Urina... ORPHA:191
Fraser Syndrome 2
Renal hypoplasia, Renal agenesis, Aplasia of the bladder OMIM:617666
Coffin-Siris Syndrome 7
Hyperactivity, Abnormal cardiac septum morphology, Abnormal heart morphology OMIM:618027
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Unilateral renal agenesis, Hydronephrosis ORPHA:487796
Meckel Syndrome 12
Renal hypoplasia, Renal agenesis, Ureteral hypoplasia OMIM:616258
Multiple Acyl-Coa Dehydrogenase Deficiency
Renal cortical cysts, Glutaric aciduria, Generalized aminoaciduria, Proximal tubulopathy, Glycosu... OMIM:231680
Optic Atrophy 11
Dysmetria, Ataxia, Hyperactivity OMIM:617302
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Lethargy, Dilated cardiomyopathy, Cardiomegaly OMIM:600649
Zttk Syndrome
Horseshoe kidney, Unilateral renal agenesis, Polyuria OMIM:617140
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Hepatomegaly, Splenomegaly, Cardiomegaly, Hyperactivity OMIM:252920
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Lacticaciduria, Death in infancy, Neonatal death, Methylmalonic aciduria, Death in childhood OMIM:245400
Distal 16P11.2 Microdeletion Syndrome
Vesicoureteral reflux, Chronic kidney disease, Renal agenesis, Abnormality of the kidney, Protein... ORPHA:261222
Beaulieu-Boycott-Innes Syndrome
Recurrent urinary tract infections, Renal agenesis, Horseshoe kidney OMIM:613680
Serkal Syndrome
Abnormal penis morphology, Renal agenesis, Hypoplasia of the bladder, Hypospadias ORPHA:139466
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Chordee, Unilateral renal agenesis, Recurrent urinary tract infections, Hypospadias, Micropenis, ... ORPHA:268261
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Cardiomegaly OMIM:618838
Distal 22Q11.2 Microduplication Syndrome
Unilateral renal agenesis ORPHA:261337
Smith-Magenis Syndrome
Hyperactivity, Hypercholesterolemia, Hypertriglyceridemia, Abnormal heart morphology OMIM:182290
Phenylketonuria
Attention deficit hyperactivity disorder, Hyperactivity OMIM:261600
Larsen-Like Syndrome, Lethal Type
Neonatal death OMIM:245650
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Congenital Arthrogryposis With Anterior Horn Cell Disease
Neonatal death OMIM:611890
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Ataxia, Hyperactivity ORPHA:411515
Intellectual Developmental Disorder, X-Linked 30
Hyperactivity OMIM:300558
Digeorge Syndrome
Renal dysplasia, Unilateral renal agenesis, Hydronephrosis OMIM:188400
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Athetosis, Ataxia, Hyperactivity ORPHA:382
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Broad-based gait, Hyperactivity OMIM:617865
Landau-Kleffner Syndrome
Steppage gait, Gait ataxia, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:98818
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Pulmonic stenosis, Atrial septal defect, Hyperactivity OMIM:619239
Fragile X Syndrome
Mitral valve prolapse, Hyperactivity OMIM:300624
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Truncal ataxia, Ataxia, Unsteady gait, Dysmetria, Hyperact... ORPHA:228360
Caudal Regression Sequence
Renal agenesis, Abnormality of the ureter, Vesicoureteral reflux, Ectopic kidney, Renal insuffici... ORPHA:3027
Dyssegmental Dysplasia, Silverman-Handmaker Type
Neonatal death OMIM:224410
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Broad-based gait, Dysplastic pulmonary valve OMIM:300958
Potocki-Lupski Syndrome
Patent foramen ovale, Atrial septal defect, Hyperactivity, Hypocholesterolemia OMIM:610883
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Gait ataxia, Truncal ataxia, Limb ataxia, Gait disturbance, Ataxia, Unsteady gait, Cardiomegaly, ... OMIM:619259
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Hyperactivity OMIM:618718
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Asymmetric septal hypertrophy, Hyperactivity, Splenomegaly OMIM:252900
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Broad-based gait, Hyperactivity ORPHA:457260
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
Boomerang Dysplasia
Neonatal death OMIM:112310
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Hyperactivity ORPHA:3077
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Hyperactivity ORPHA:500180
Succinic Semialdehyde Dehydrogenase Deficiency
Ataxia, Hyperactivity OMIM:271980
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Mental Retardation, Autosomal Recessive 38
Unsteady gait, Hyperactivity OMIM:615516
Fetal Gaucher Disease
Neonatal death, Death in infancy, Stillbirth ORPHA:85212
Citrullinemia Type Ii
Hypercholesterolemia, Lethargy, Hepatomegaly, Hypertriglyceridemia, Hyperactivity, Hyperlipidemia ORPHA:247585
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Horseshoe kidney, Bilateral renal dysplasia, Unilateral renal agenesis ORPHA:500150
Pallister-Hall Syndrome
Bilateral renal agenesis, Unilateral renal agenesis, Renal dysplasia, Ectopic kidney, Hypospadias... ORPHA:672
Faciocardiomelic Dysplasia, Lethal
Neonatal death OMIM:227270
Mend Syndrome
Aortic valve stenosis, Hyperactivity OMIM:300960
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Lethal Congenital Contracture Syndrome 1
Neonatal death OMIM:253310
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity OMIM:615824
Myoclonic-Astatic Epilepsy
Unsteady gait, Attention deficit hyperactivity disorder, Ataxia, Hyperactivity ORPHA:1942
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Neonatal death, Micropenis OMIM:618810
Graves Disease, Susceptibility To, 1
Hyperactivity OMIM:275000
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Neonatal death OMIM:601376
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Renal insufficiency, Horseshoe kidney, Acute kidney injury, Renal agenesis, Multicystic kidney dy... ORPHA:93111
Thanatophoric Dysplasia, Type Ii
Neonatal death OMIM:187601
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity OMIM:300143
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Difficulty walking, Decreased circulating cortisol level, Gait disturbance, At... ORPHA:139396
Radio-Renal Syndrome
Renal hypoplasia/aplasia, Renal dysplasia, Renal agenesis, Multicystic kidney dysplasia ORPHA:3015
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Asymmetric septal hypertrophy, Hyperactivity, Splenomegaly OMIM:252930
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Dilated cardiomyopathy, Lethargy, Ventricular septal defect, Pericardial ef... ORPHA:26793
X-Linked Creatine Transporter Deficiency
Dystonia, Athetosis, Ataxia, Hyperactivity ORPHA:52503
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity ORPHA:101039
19P13.12 Microdeletion Syndrome
Hyperactivity, Atrial septal defect, Hyperlipidemia, Ventricular septal defect ORPHA:254346
8Q24.3 Microdeletion Syndrome
Unilateral renal agenesis, Bilateral renal hypoplasia, Vesicoureteral reflux, Pelvic kidney, Abno... ORPHA:508488
Lumbar Syndrome
Renal agenesis, Vesicoureteral reflux, Bladder exstrophy, Hypospadias, Micropenis, Renal duplication ORPHA:83628
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Neonatal death, Lacticaciduria, Ketonuria OMIM:619167
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Ataxia, Unsteady gait, Hyperactivity ORPHA:35069
Pallister-Hall Syndrome
Hydroureter, Renal hypoplasia, Renal dysplasia, Neonatal death, Renal cyst, Ectopic kidney, Hydro... OMIM:146510
16P12.1P12.3 Triplication Syndrome
Atrial septal defect, Abnormal heart morphology, Abnormal tricuspid valve morphology, Hyperactivi... ORPHA:485405
Combined Oxidative Phosphorylation Deficiency 40
Neonatal death, Death in infancy OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Death in infancy OMIM:618839
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Death in adolescence, Death in infancy, Aminoaciduria, Neonatal death, Death in childhood OMIM:619055
Mucopolysaccharidosis, Type Iiid
Hepatomegaly, Asymmetric septal hypertrophy, Hyperactivity, Splenomegaly OMIM:252940
Renal Dysplasia-Limb Defects Syndrome
Renal hypoplasia, Renal dysplasia, Neonatal death OMIM:266910
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity OMIM:618314
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Lethargy, Increased circulating free fatty acid level, Hypertrophic cardi... ORPHA:71212
Glutamine Deficiency, Congenital
Neonatal death OMIM:610015
Thanatophoric Dysplasia, Type I
Neonatal death OMIM:187600
Histidinemia
Hyperactivity ORPHA:2157
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Bradykinesia, Dysmetria, Hyperactivity OMIM:610217
X-Linked Adrenoleukodystrophy
Gait disturbance, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:43
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Perimembranous ventricu... ORPHA:1457
Raine Syndrome
Neonatal death, Hydronephrosis, Hydroureter OMIM:259775
Brain-Lung-Thyroid Syndrome
Dystonia, Atrial septal defect, Ventricular septal defect, Ataxia, Falls, Hyperactivity, Patent f... ORPHA:209905
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Mitral valve prolapse, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:449291
Pitt-Hopkins-Like Syndrome 1
Ataxia, Hyperactivity OMIM:610042
Maternal Phenylketonuria
Ventricular septal defect, Abnormal heart morphology, Double outlet right ventricle, Hypoplastic ... ORPHA:2209
Stankiewicz-Isidor Syndrome
Hyperactivity, Truncus arteriosus, Ventricular septal defect OMIM:617516
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal death, Death in infancy OMIM:265120
Short-Rib Thoracic Dysplasia 12
Renal hypoplasia, Neonatal death, Cystic renal dysplasia OMIM:269860
Oeis Complex
Renal agenesis, Hydroureter, Duplicated collecting system, Hydronephrosis, Vesicovaginal fistula,... OMIM:258040
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity OMIM:609727
Epidermolysis Bullosa, Lethal Acantholytic
Neonatal death OMIM:609638
Purine Nucleoside Phosphorylase Deficiency
Ataxia, Hyperactivity ORPHA:760
Argininemia
Hepatomegaly, Spastic gait, Hyperactivity OMIM:207800
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Hyperactivity, Attention defi... OMIM:607721
Developmental And Epileptic Encephalopathy 89
Neonatal death, Death in childhood OMIM:619124
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Akinesia, Gait disturbance, Blepharospasm, Ataxia, Bradykinesia, Hyperactivity OMIM:234200
Atelosteogenesis, Type I
Neonatal death, Stillbirth OMIM:108720
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Neonatal death, Micropenis OMIM:617925
Familial Gestational Hyperthyroidism
Hyperactivity ORPHA:99819
Mucopolysaccharidosis Type 2
Abnormal mitral valve morphology, Abnormal heart valve morphology, Abnormal heart morphology, Abn... ORPHA:580
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity ORPHA:424
Cerebellar Ataxia, Nonprogressive, With Mental Retardation
Dysmetria, Unsteady gait, Ataxia, Hyperactivity OMIM:614756
Oculoectodermal Syndrome
Hyperactivity, Atrial septal defect, Hypertrophic cardiomyopathy OMIM:600268
Surfactant Metabolism Dysfunction, Pulmonary, 3
Neonatal death, Death in infancy OMIM:610921
Greenberg Dysplasia
Neonatal death, Stillbirth OMIM:215140
Choreoacanthocytosis
Hyperactivity, Blepharospasm, Bradykinesia, Hepatomegaly, Laryngeal dystonia, Progressive inabili... ORPHA:2388
Visceral Steatosis, Congenital
Renal steatosis, Neonatal death OMIM:228100
Fontaine Progeroid Syndrome
Neonatal death, Micropenis, Death in infancy OMIM:612289
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hydroureter, Neonatal death, Hydronephrosis, Dilatation of the bladder, Hypospadias, Dilatation o... OMIM:265380

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 Kif26b

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 Kif26b.

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

Title Journal IMPC Allele PubMed ID
Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program. PloS one (July 2017) Kif26btm2b(KOMP)Wtsi PMC5503261

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MGI Allele Allele Type Produced
Kif26btm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Kif26btm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Kif26btm2b(KOMP)Wtsi Reporter-tagged deletion allele (post-Cre) Mice

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