Gene Summary

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

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
hyperactivity Kif26btm2b(KOMP)Wtsi HET Early adult 9.59×10-06
decreased circulating free fatty acids level Kif26btm2b(KOMP)Wtsi HET Early adult 1.35×10-06
preweaning lethality, complete penetrance Kif26btm2b(KOMP)Wtsi HOM   Early adult 0.00
increased heart weight Kif26btm2b(KOMP)Wtsi HET Early adult 1.27×10-05

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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 0.74% (4 of 537)
aorta 0.19% (1 of 528)
brain 0.91% (5 of 547)
brainstem 0.37% (2 of 539)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 529)
cerebellum 0.37% (2 of 542)
cerebral cortex 0.37% (2 of 535)
epididymis 13.64% (18 of 132)
esophagus 1.63% (6 of 367)
eye 0.0%
heart 0.37% (2 of 546)
hippocampus 0.56% (3 of 532)
hypothalamus 0.37% (2 of 535)
kidney 4.3% (23 of 535)
large intestine 5.08% (27 of 532)
liver 0.0%
lower urinary tract 0.19% (1 of 532)
lung 0.37% (2 of 547)
lymph node 0.18% (1 of 544)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.37% (2 of 537)
ovary 0.19% (1 of 539)
oviduct 0.0%
pancreas 0.96% (5 of 522)
peripheral nervous system 0.19% (1 of 520)
peyers patch 0.0%
pituitary gland 0.19% (1 of 529)
prostate gland 2.23% (12 of 539)
skeletal muscle 0.0%
skin 0.18% (1 of 544)
small intestine 5.69% (31 of 545)
spinal cord 0.56% (3 of 534)
spleen 0.56% (3 of 531)
stomach 3.72% (20 of 537)
striatum 0.37% (2 of 535)
submandibular gland 1.54% (2 of 130)
testis 0.95% (5 of 524)
thalamus 0.0%
thymus 0.19% (1 of 535)
thyroid gland 3.22% (17 of 528)
trachea 0.55% (3 of 544)
urinary bladder 0.0%
uterus 0.38% (2 of 527)
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 1.26% (6 of 477)
dorsal root ganglion 1.72% (1 of 58)
ear 0.21% (1 of 480)
embryo 0.42% (2 of 479)
eye 0.21% (1 of 480)
footplate 0.21% (1 of 480)
forebrain 0.21% (1 of 468)
forelimb 0.21% (1 of 468)
fronto-nasal process 1.75% (1 of 57)
handplate 0.21% (1 of 475)
head 1.04% (5 of 479)
heart 0.21% (1 of 471)
hindbrain 1.27% (6 of 471)
hindlimb 0.21% (1 of 479)
liver 0.21% (1 of 474)
lung 0.22% (1 of 462)
mandibular process 0.21% (1 of 479)
maxillary process 0.21% (1 of 470)
midbrain 0.21% (1 of 471)
nose 1.39% (1 of 72)
oral cavity 0.21% (1 of 470)
skin 0.0%
spinal cord 1.47% (1 of 68)
tail 0.21% (1 of 470)
tail somite group 0.0%

Associated Images

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

Adult LacZ

LacZ Images Section

28 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Forepaw

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Embryo LacZ

LacZ images wholemount

12 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

Eye Morphology

Images Slit Lamp

1 Images

MicroCT E18.5

Embryo reconstruction

2 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

7 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
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Neurofaciodigitorenal Syndrome
Unilateral renal agenesis OMIM:256690
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Unilateral renal agenesis OMIM:235740
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Unilateral renal agenesis, Bilateral renal agenesis, Ureteral atresia, Death in infancy OMIM:618845
Immunodeficiency 8
Hyperactivity OMIM:615401
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Pyknoachondrogenesis
Stillbirth OMIM:265880
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Abnormal renal tubule morphology, Abnormality ... ORPHA:93101
Ethanolaminosis
Cardiomegaly OMIM:227150
Autosomal Recessive Primary Microcephaly
Unilateral renal agenesis, Vesicoureteral reflux ORPHA:2512
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Horseshoe kidney, Hydronephrosis, ... OMIM:617805
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Unilateral renal agenesis, Chronic kidney disease, Renal hypoplasia OMIM:617661
Radial-Renal Syndrome
Unilateral renal agenesis, Ectopic kidney OMIM:179280
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Unilateral renal agenesis OMIM:206750
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis OMIM:601355
8p23.1 deletion syndrome
Abnormal heart morphology, Hyperactivity, Atrial septal defect, Atrioventricular canal defect DECIPHER:39
Thymic Aplasia With Fetal Death
Renal agenesis, Stillbirth, Ureteral agenesis OMIM:274210
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Ectopic kidney, Renal agenesis OMIM:601076
Holzgreve Syndrome
Renal agenesis, Renal hypoplasia OMIM:236110
Bladder Exstrophy And Epispadias Complex
Unilateral renal agenesis, Hydroureter, Bladder exstrophy, Horseshoe kidney, Epispadias OMIM:600057
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Syndromic Recessive X-Linked Ichthyosis
Unilateral renal agenesis, Renal insufficiency ORPHA:281090
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Oligomeganephronia
Renal tubular atrophy, Decreased glomerular filtration rate, Unilateral renal agenesis, Bilateral... ORPHA:2260
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Unilateral renal agenesis, Micropenis OMIM:244200
Bardet-Biedl Syndrome 16
Renal agenesis, Abnormality of the kidney, Renal dysplasia, Renal cyst, Renal insufficiency OMIM:615993
Renal Agenesis
Unilateral renal agenesis, Renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal age... ORPHA:411709
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Unilateral renal agenesis, Crossed fused renal ectopia, Micropenis OMIM:618142
Beaulieu-Boycott-Innes Syndrome
Unilateral renal agenesis, Recurrent urinary tract infections, Horseshoe kidney OMIM:613680
Mayer-Rokitansky-Küster-Hauser Syndrome
Unilateral renal agenesis, Abnormality of the kidney, Horseshoe kidney, Ectopic kidney ORPHA:3109
Burn-Mckeown Syndrome
Unilateral renal agenesis, Renal hypoplasia OMIM:608572
Congenital Anomalies Of Kidney And Urinary Tract 2
Congenital megaureter, Hydroureter, Hyperechogenic kidneys, Renal dysplasia, Ureteropelvic juncti... OMIM:143400
Thymic-Renal-Anal-Lung Dysplasia
Renal agenesis, Ureteral dysgenesis, Ureteral agenesis OMIM:274265
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... OMIM:613092
Chopra-Amiel-Gordon Syndrome
Unilateral renal agenesis OMIM:619504
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Unilateral renal agenesis OMIM:608406
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Cutis Laxa, Autosomal Dominant 3
Unilateral renal agenesis OMIM:616603
Williams-Beuren Region Duplication Syndrome
Unilateral renal agenesis, Hydronephrosis OMIM:609757
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Braddock Syndrome
Unilateral renal agenesis ORPHA:52047
Immunoneurologic Disorder, X-Linked
Functional abnormality of the bladder, Neonatal death OMIM:300076
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal cyst, Renal hypoplasia, Neonatal death OMIM:228940
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Reduced renal corticomedullary differentiation, Renal cortical hyperechogenicity, Beta 2-microglo... OMIM:611555
Ehlers-Danlos Syndrome, Classic-Like
Unilateral renal agenesis, Vesicoureteral reflux OMIM:606408
Inverted Duplicated Chromosome 15 Syndrome
Unilateral renal agenesis ORPHA:3306
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Klippel-Feil Syndrome 1, Autosomal Dominant
Unilateral renal agenesis, Abnormality of the kidney OMIM:118100
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Absence of renal corticomedullary differentiation, Micropenis, Unilateral renal agenesis, Renal a... OMIM:617641
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis OMIM:158330
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Hyperechogenic kidneys, Death in infancy, Proximal tubulopathy OMIM:614576
Intellectual Developmental Disorder, Autosomal Dominant 36
Unilateral renal agenesis OMIM:616362
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Kallmann Syndrome With Spastic Paraplegia
Unilateral renal agenesis, Micropenis OMIM:308750
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Coach Syndrome 1
Nephronophthisis, Unilateral renal agenesis, Renal cyst, Multiple small medullary renal cysts, St... OMIM:216360
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Unilateral renal agenesis ORPHA:1064
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Micropenis, Unilateral renal agenesis, Hypospadias, Abnormality of the kidney, Recurrent urinary ... ORPHA:363444
Branchiootorenal Syndrome 1
Unilateral renal agenesis, Abnormal renal collecting system morphology, Renal dysplasia, Renal st... OMIM:113650
Fanconi Anemia, Complementation Group O
Miscarriage, Neonatal death, Renal cyst, Death in infancy, Hydronephrosis, Stage 5 chronic kidney... OMIM:613390
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Organic aciduria, Neonatal death, Death in infancy OMIM:617184
Renal Cysts And Diabetes Syndrome
Nephrolithiasis, Unilateral renal agenesis, Hypospadias, Abnormality of the kidney, Glycosuria, A... OMIM:137920
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Hyperactivity, Hepatomegaly OMIM:615924
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death OMIM:301021
Nephronophthisis 13
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, Mu... OMIM:614377
Cenani-Lenz Syndactyly Syndrome
Renal agenesis, Renal hypoplasia OMIM:212780
Schizophrenia 1
Renal agenesis, Partially duplicated kidney, Ectopic kidney OMIM:181510
Bifid Nose With Or Without Anorectal And Renal Anomalies
Unilateral renal agenesis, Renal agenesis OMIM:608980
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Unilateral renal agenesis, Renal agenesis OMIM:619227
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Unilateral renal agenesis, Micropenis OMIM:308700
Nager Syndrome
Unilateral renal agenesis ORPHA:245
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal dysplasia OMIM:308205
Emanuel Syndrome
Unilateral renal agenesis, Renal hypoplasia, Micropenis ORPHA:96170
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Neonatal death, Ureteral agenesis, Renal dysplasia, Renal cyst, Renal hypoplasia, Stillbirth OMIM:236500
Short Stature, Microcephaly, And Endocrine Dysfunction
Unilateral renal agenesis, Renal hypoplasia, Ectopic kidney, Micropenis OMIM:616541
Tessadori-Van Haaften Neurodevelopmental Syndrome 4
Unilateral renal agenesis, Vesicoureteral reflux, Micropenis OMIM:619951
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Renal agenesis, Ectopic kidney, Renal dysplasia ORPHA:2578
Methylmalonic Acidemia With Homocystinuria Type Cblf
Unilateral renal agenesis, Methylmalonic aciduria ORPHA:79284
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Renal dysplasia, Polycystic kidney dysplasia, Renal insufficiency, Hyd... ORPHA:2237
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Neonatal death OMIM:619602
Microgastria-Limb Reduction Defects Association
Unilateral renal agenesis, Horseshoe kidney, Pelvic kidney, Cystic renal dysplasia OMIM:156810
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617113
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Hypoplasia of the bladder, Recurrent uri... OMIM:614527
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Unilateral renal agenesis, Neonatal death OMIM:620024
Arthrogryposis Multiplex Congenita 6
Hypospadias, Death in childhood, Neonatal death, Death in infancy OMIM:619334
Takenouchi-Kosaki Syndrome
Unilateral renal agenesis, Hypospadias, Hydronephrosis OMIM:616737
Stuve-Wiedemann Syndrome 2
Stillbirth, Neonatal death, Death in adolescence OMIM:619751
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
Ventriculomegaly With Defects Of The Radius And Kidney
Renal agenesis, Ectopic kidney, Ureteral duplication, Horseshoe kidney OMIM:602200
Bresek Syndrome
Hypoplasia of the bladder, Neonatal death, Renal dysplasia, Renal hypoplasia, Vesicoureteral reflux ORPHA:85284
Acrorenal Syndrome, Autosomal Recessive
Decreased numbers of nephrons, Renal hypoplasia, Renal insufficiency OMIM:201310
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Absence of renal corticomedullary differentiation, Neonatal death, Tubulointerstitial fibrosis, E... OMIM:263200
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Neonatal death OMIM:612138
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydroureter, Neonatal death, Hydronephrosis, Fetal megacystis, Megacystis OMIM:619362
Mitochondrial Complex I Deficiency, Nuclear Type 35
Lacticaciduria, Elevated urinary 4-hydroxybutyric acid, Neonatal death OMIM:619003
Acrodysostosis 1 With Or Without Hormone Resistance
Unilateral renal agenesis OMIM:101800
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Unilateral renal agenesis, Stillbirth, Hydronephrosis OMIM:308050
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Micropenis, Unilateral renal agenesis, Hypospadias, Renal cyst, Hydronephrosis, Pelvic kidney ORPHA:464311
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Renal hypoplasia, Micropenis OMIM:614083
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Unilateral renal agenesis, Recurrent urinary tract infections ORPHA:221139
Intellectual Developmental Disorder, Autosomal Dominant 67
Attention deficit hyperactivity disorder, Hyperactivity OMIM:619927
Dyrk1A-Related Intellectual Disability Syndrome
Micropenis, Unilateral renal agenesis, Hypospadias, Renal cyst, Hydronephrosis, Pelvic kidney ORPHA:464306
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death OMIM:601612
7Q11.23 Microduplication Syndrome
Unilateral renal agenesis, Hypospadias, Enuresis, Hydronephrosis ORPHA:96121
Cockayne Syndrome Type 3
Unilateral renal agenesis, Hydroureter, Urinary retention, Renal hypoplasia, Renal insufficiency,... ORPHA:90324
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Unilateral renal agenesis, Hypospadias, Abnormal renal collecting system morphology, Pelvic kidne... ORPHA:468631
Neurofaciodigitorenal Syndrome
Unilateral renal agenesis ORPHA:2673
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... OMIM:174000
Penoscrotal Transposition
Renal agenesis, Hypospadias, Abnormality of the ureter, Abnormality of the urethra, Renal dysplas... ORPHA:2842
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria, Neonatal death OMIM:602199
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect, Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Unilateral renal agenesis, Hydroureter, Bilateral renal agenesis OMIM:619194
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Micropenis, Unilateral renal agenesis, Hypospadias, Abnormality of the urinary system, Vesicouret... ORPHA:95699
Acrofacial Dysostosis 1, Nager Type
Unilateral renal agenesis OMIM:154400
Smith-Lemli-Opitz Syndrome
Micropenis, Unilateral renal agenesis, Hypospadias, Renal agenesis, Renal cyst, Ureteropelvic jun... OMIM:270400
Myoectodermal Gonadal Dysgenesis Syndrome
Unilateral renal agenesis OMIM:618419
Leopard Syndrome 1
Unilateral renal agenesis, Hypospadias, Micropenis OMIM:151100
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Unilateral renal agenesis, Hypospadias, Hydronephrosis ORPHA:487796
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Unilateral renal agenesis OMIM:213980
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Unilateral renal agenesis ORPHA:457284
Myotubular Myopathy With Abnormal Genital Development
Micropenis, Hypospadias, Glandular hypospadias, Neonatal death, Penile hypospadias, Death in infancy OMIM:300219
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy, Cardiomegaly OMIM:252920
Fraser Syndrome 2
Aplasia of the bladder, Renal hypoplasia, Renal agenesis OMIM:617666
Cardiomyopathy, Familial Hypertrophic 27
Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, Endocardial fibroelastosis... OMIM:618052
Cockayne Syndrome
Nephrotic syndrome, Abnormal renal physiology, Unilateral renal agenesis, Renal hypoplasia, Prote... ORPHA:191
Meckel Syndrome 12
Renal agenesis, Ureteral hypoplasia, Renal hypoplasia OMIM:616258
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in childhood, Methylmalonic aciduria, Neonatal death, Death in infancy, Lacticaciduria OMIM:245400
Serkal Syndrome
Abnormal penis morphology, Hypospadias, Hypoplasia of the bladder, Renal agenesis ORPHA:139466
Multiple Acyl-Coa Dehydrogenase Deficiency
Renal cortical cysts, Glycosuria, Neonatal death, Generalized aminoaciduria, Polycystic kidney dy... OMIM:231680
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Chordee, Micropenis, Unilateral renal agenesis, Hypospadias, Recurrent urinary tract infections, ... ORPHA:268261
Zttk Syndrome
Unilateral renal agenesis, Polyuria, Horseshoe kidney OMIM:617140
Larsen-Like Syndrome, Lethal Type
Neonatal death OMIM:245650
Distal 22Q11.2 Microduplication Syndrome
Unilateral renal agenesis ORPHA:261337
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Pulmonic stenosis, Hyperactivity, Atrial septal defect OMIM:619239
Combined Oxidative Phosphorylation Deficiency 21
Neonatal death OMIM:615918
Autosomal Dominant Cutis Laxa
Unilateral renal agenesis, Bladder diverticulum, Pyelonephritis ORPHA:90348
Combined Oxidative Phosphorylation Deficiency 2
Neonatal death OMIM:610498
Lissencephaly 7 With Cerebellar Hypoplasia
Neonatal death, Death in infancy OMIM:616342
Proboscis Lateralis
Unilateral renal agenesis, Duplication of renal pelvis, Ureteral agenesis ORPHA:141099
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Cardiomegaly OMIM:618838
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Neonatal death OMIM:619817
Dyssegmental Dysplasia, Silverman-Handmaker Type
Neonatal death OMIM:224410
Afibrinogenemia, Congenital
Death in childhood, Death in adolescence, Neonatal death, Death in infancy OMIM:202400
Boomerang Dysplasia
Neonatal death OMIM:112310
Fetal Gaucher Disease
Stillbirth, Neonatal death, Death in infancy ORPHA:85212
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... ORPHA:555874
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral renal agenesis, Horseshoe kidney, Bilateral renal dysplasia ORPHA:500150
Pallister-Hall Syndrome
Micropenis, Unilateral renal agenesis, Hypospadias, Bilateral renal agenesis, Renal dysplasia, Ec... ORPHA:672
Digeorge Syndrome
Unilateral renal agenesis, Renal insufficiency, Hydronephrosis, Renal dysplasia OMIM:188400
Lymphatic Malformation 12
Death in adolescence, Neonatal death OMIM:620014
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Neonatal death, Micropenis OMIM:618810
Faciocardiomelic Dysplasia, Lethal
Neonatal death OMIM:227270
Lethal Congenital Contracture Syndrome 1
Neonatal death OMIM:253310
Renal-Hepatic-Pancreatic Dysplasia 1
Neonatal death, Enlarged kidney, Renal dysplasia, Polycystic kidney dysplasia, Renal insufficienc... OMIM:208540
Abcd Syndrome
Neonatal death OMIM:600501
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Renal agenesis, Hypospadias, Multicystic kidney dysplasia, Renal Fanconi syndrome, Renal cell car... ORPHA:93111
Cardiomyopathy, Dilated, 2G
Neonatal death OMIM:619897
Meacham Syndrome
Death in childhood, Neonatal death, Enlarged kidney, Horseshoe kidney, Death in infancy, Stillbirth OMIM:608978
Thanatophoric Dysplasia, Type Ii
Neonatal death OMIM:187601
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Unilateral renal agenesis, Urinary urgency, Pelvic kidney, Micropenis OMIM:619503
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Neonatal death OMIM:601376
Phosphoribosylaminoimidazole Carboxylase Deficiency
Coronal hypospadias, Neonatal death OMIM:619859
Histidinemia
Hyperactivity ORPHA:2157
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Lacticaciduria, Ketonuria, Neonatal death OMIM:619167
Lumbar Syndrome
Micropenis, Renal agenesis, Hypospadias, Renal duplication, Bladder exstrophy, Vesicoureteral reflux ORPHA:83628
Pallister-Hall Syndrome
Distal urethral duplication, Micropenis, Hydroureter, Neonatal death, Renal dysplasia, Renal cyst... OMIM:146510
Molybdenum Cofactor Deficiency, Complementation Group C
Increased urinary taurine, Neonatal death OMIM:615501
8Q24.3 Microdeletion Syndrome
Unilateral renal agenesis, Abnormality of the kidney, Bilateral renal hypoplasia, Pelvic kidney, ... ORPHA:508488
Combined Oxidative Phosphorylation Deficiency 40
Neonatal death, Death in infancy OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Death in infancy OMIM:618839
Aorta Coarctation
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Abnorma... ORPHA:1457
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Aminoaciduria, Death in childhood, Death in adolescence, Neonatal death, Death in infancy OMIM:619055
Renal Dysplasia-Limb Defects Syndrome
Renal hypoplasia, Neonatal death, Renal dysplasia OMIM:266910
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
D-2-hydroxyglutaric aciduria, Unilateral renal agenesis ORPHA:99646
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypospadias, Death in childhood, 3-Methylglutaconic aciduria, Neonatal death OMIM:614052
Raine Syndrome
Hydroureter, Neonatal death, Hydronephrosis, Death in infancy OMIM:259775
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Death in childhood, Neonatal death, Death in infancy OMIM:609313
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Short-Rib Thoracic Dysplasia 12
Renal hypoplasia, Cystic renal dysplasia, Neonatal death OMIM:269860
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal death, Death in infancy OMIM:265120
Epidermolysis Bullosa, Lethal Acantholytic
Neonatal death OMIM:609638
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Neonatal death, Micropenis OMIM:617925
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hypospadias, Hydroureter, Neonatal death, Hydronephrosis, Dilatation of the renal pelvis, Dilatat... OMIM:265380
Restrictive Dermopathy 1
Hypospadias, Stillbirth, Ureteral duplication, Neonatal death OMIM:275210
Visceral Steatosis, Congenital
Renal steatosis, Neonatal death OMIM:228100

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
Kif26btm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Kif26btm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Kif26btm2b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Kif26btm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Kif26btm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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