Gene Summary

Name:
kinesin family member 21B
Synonyms:
N-5 kinesin,  2610511N21Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased lean body mass Kif21btm1a(KOMP)Wtsi HOM Early adult 8.34×10-05
decreased total body fat amount Kif21btm1a(KOMP)Wtsi HOM Early adult 3.63×10-05
decreased circulating cholesterol level Kif21btm1a(KOMP)Wtsi HOM Early adult 3.28×10-05
decreased circulating total protein level Kif21btm1a(KOMP)Wtsi HOM Early adult 1.80×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Legacy Phenotype Associated Images

View all 67 images

Human diseases caused by Kif21b 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 Kif21b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Trypsinogen Deficiency
Failure to thrive, Hypoproteinemia OMIM:614044
Enterokinase Deficiency
Failure to thrive, Hypoproteinemia OMIM:226200
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipoproteinemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Congenital Analbuminemia
Lipodystrophy, Hypoproteinemia, Hyperlipidemia, Small for gestational age, Hypercholesterolemia, ... ORPHA:86816
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypotriglyceridemia, Failure to thrive, Hypoalbuminemia,... OMIM:246700
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Hypoalbuminemia OMIM:600351
Nephrotic Syndrome, Type 1
Small for gestational age, Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Failure to thrive, I... OMIM:267700
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Citrullinemia Type Ii
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Elevated plasma citrulline, Decreased body... ORPHA:247585
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Failure to thrive, Hypocholesterolemia, Decreased LDL ch... OMIM:616834
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Ménétrier Disease
Hypoproteinemia, Weight loss, Hypoalbuminemia ORPHA:2494
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Refractory Celiac Disease
Hypoproteinemia, Hypocalcemia, Hypophosphatemia, Hypoalbuminemia, Hypomagnesemia, Weight loss ORPHA:398063
Glycogen Storage Disease Vi
Failure to thrive in infancy, Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Hypercholesterolemia, Elevated circulating apolipoprotein B concentration, Xanthe... OMIM:144250
Omenn Syndrome
Failure to thrive, Hypoproteinemia OMIM:603554
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia, Flexion contracture OMIM:608093
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Small for gestational age, Hypocalcemia, Obesity, Overweight, Elevated circulati... ORPHA:26793
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Failure to thrive, H... OMIM:603553
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypocalcemia, Hypoalbuminemia, Hypomagnesemia, Weight loss ORPHA:90362
Dengue Fever
Hypoproteinemia ORPHA:99828
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
Hypercholesterolemia, Familial, 4
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:603813
Analbuminemia
Lipodystrophy, Elevated circulating transferrin concentration, Hypercholesterolemia, Hypoalbumine... OMIM:616000
Squalene Synthase Deficiency
Elevated circulating methylsuccinic acid concentration, Increased circulating farnesol concentrat... OMIM:618156
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Elevated plasma citrulline, Hypermethioninemia, Failure to thrive, Hyperbil... OMIM:605814
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Inguinal hernia, Hypocalcemia, Hypoproteinemia OMIM:235255
Johanson-Blizzard Syndrome
Failure to thrive, Hypoproteinemia ORPHA:2315
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Hypocholesterolemia, Steatorrhea OMIM:266510
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Inguinal hernia, Hypocalcemia, Hypoproteinemia ORPHA:1655
Bile Acid Synthesis Defect, Congenital, 1
Failure to thrive, Hypocholesterolemia, Hyperbilirubinemia, Steatorrhea OMIM:607765
Potocki-Lupski Syndrome
Failure to thrive, Hypocholesterolemia, Small for gestational age OMIM:610883
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Hypertriglyceridemia ORPHA:167
Chylomicron Retention Disease
Failure to thrive, Hypocholesterolemia, Steatorrhea ORPHA:71
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Decreased body weight, Elevated circulating creatine kinase concentration, ... ORPHA:96180
Gaisböck Syndrome
Hypercholesterolemia, Increased circulating renin level, Obesity, Overweight, Hyperuricemia, Hype... ORPHA:90041
Congenital Disorder Of Glycosylation, Type Ia
Flexion contracture, Abnormal subcutaneous fat tissue distribution, Failure to thrive, Hypoalbumi... OMIM:212065
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:277460
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Multiple Myeloma
Hyperproteinemia, Weight loss, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Abetalipoproteinemia
Hypotriglyceridemia, Decreased HDL cholesterol concentration, Failure to thrive, Hyperbilirubinem... ORPHA:14
Alg12-Cdg
Hyponatremia, Abnormal adipose tissue morphology, Failure to thrive, Hypoalbuminemia, Hypocholest... ORPHA:79324
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia ORPHA:158048
Pierson Syndrome
Hypoproteinemia OMIM:609049
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Decreased circulating apolipoprotein C-II concen... OMIM:207750
Juvenile Polyposis Syndrome
Multiple lipomas, Failure to thrive, Hypoproteinemia, Rectocele ORPHA:2929
Secondary Intestinal Lymphangiectasia
Secondary hyperaldosteronism, Hypoalbuminemia, Reduced circulating transferrin concentration, Hyp... ORPHA:90363
Kaufman Oculocerebrofacial Syndrome
Failure to thrive, Hypocholesterolemia OMIM:244450
Tangier Disease
Hypocholesterolemia, Hypertriglyceridemia ORPHA:31150
Smith-Lemli-Opitz Syndrome
Failure to thrive, Hypocholesterolemia, Elevated 7-dehydrocholesterol OMIM:270400
Leptospirosis
Hyperproteinemia ORPHA:509

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 Kif21b

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 Kif21b.

There are 6 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity. Nature communications (May 2020) Kif21btm1a(KOMP)Wtsi PMC7229210
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Kif21btm1a(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Kif21btm1a(KOMP)Wtsi PMC6459510
Neurobeachin and the Kinesin KIF21B Are Critical for Endocytic Recycling of NMDA Receptors and Regulate Social Behavior. Cell reports (May 2018) Kif21btm2a(KOMP)Wtsi 29847800
WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy. Proceedings of the National Academy of Sciences of the United States of America (October 2017) Kif21btm1a(KOMP)Wtsi PMC5676932
The Kinesin KIF21B Regulates Microtubule Dynamics and Is Essential for Neuronal Morphology, Synapse Function, and Learning and Memory. Cell reports (April 2016) Kif21btm2a(KOMP)Wtsi PMC5305027

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MGI Allele Allele Type Produced
Kif21btm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Kif21btm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Kif21btm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Kif21btm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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