Gene Summary

Name:
kelch-like 22
Synonyms:
Kelchl,  2610318I18Rik

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
decreased lean body mass Klhl22em1(IMPC)J HOM Late adult 1.02×10-05
abnormal lens morphology Klhl22em1(IMPC)J HOM Late adult 2.51×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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.

X-ray

XRay Images Forepaw

4 Images

X-ray

XRay Images Skull Lateral Orientation

4 Images

Combined SHIRPA and Dysmorphology

Images

1 Images

X-ray

XRay Images Whole Body Lateral Orientation

4 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

4 Images

Eye Morphology

Images Ophthalmoscopy

4 Images

X-ray

XRay Images Whole Body Dorso Ventral

4 Images

Electrocardiogram (ECG)

Waveform Image

12 Images

Electrocardiogram (ECG)

Waveform Image

19 Images

Auditory Brain Stem Response

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

8 Images

Human diseases caused by Klhl22 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 Klhl22 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Cataract 29
Cataract OMIM:115800
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 35
Cataract OMIM:609376
Cataract 45
Developmental cataract OMIM:616851
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 38
Developmental cataract OMIM:614691
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Corneal Dystrophy, Groenouw Type I
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy OMIM:121900
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Cataract 42
Cataract, Developmental cataract OMIM:115900
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Trichomegaly
Cataract OMIM:190330
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Anterior Segment Dysgenesis 8
Microphakia, Iris transillumination defect, Iridodonesis, Corneal stromal edema, Corneal opacity,... OMIM:617319
Exfoliation Syndrome
Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes... OMIM:177650
Cataract 10, Multiple Types
Developmental cataract, Posterior Y-sutural cataract, Zonular cataract, Nuclear cataract OMIM:600881
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Cataract 47
Cataract, Microcornea OMIM:612018
Cataract 1, Multiple Types
Posterior subcapsular cataract, Nuclear cataract, Microcornea, Pulverulent cataract OMIM:116200
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Aniridia-Intellectual Disability Syndrome
Cataract, Ectopia lentis, Aniridia ORPHA:1068
Cataract 3, Multiple Types
Cerulean cataract, Developmental cataract, Nuclear pulverulent cataract, Sutural cataract OMIM:601547
Aniridia 2
Cataract, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Proximal Myotonic Myopathy
Cataract ORPHA:606
Cataract 5, Multiple Types
Anterior polar cataract, Zonular cataract, Lamellar cataract, Nuclear cataract, Pulverulent cataract OMIM:116800
Ectopia Lentis Et Pupillae
Iris transillumination defect, Persistent pupillary membrane, Ectopia lentis, Ectopia pupillae, C... OMIM:225200
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... OMIM:269400
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De... ORPHA:708
Cataract 39, Multiple Types
Lamellar cataract, Developmental cataract, Anterior polar cataract OMIM:615188
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Cataract 23, Multiple Types
Lamellar cataract, Microcornea, Nuclear cataract OMIM:610425
Anterior Segment Dysgenesis 1
Ocular anterior segment dysgenesis, Microcornea, Posterior polar cataract, Opacification of the c... OMIM:107250
Adult Acute Respiratory Distress Syndrome
Abnormality of tumor necrosis factor secretion, Abnormal circulating interleukin concentration, I... ORPHA:70578
Cataract 41
Nuclear cataract OMIM:116400
Cataract 18
Nuclear cataract OMIM:610019
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Acute Lung Injury
Abnormal circulating cytokine concentration, Increased circulating interleukin 6 concentration, A... ORPHA:178320
Cataract 31, Multiple Types
Anterior subcapsular cataract, Posterior subcapsular cataract, Nuclear cataract OMIM:605387
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Cataract 30, Multiple Types
Pulverulent cataract, Diffuse nuclear cataract, Posterior polar cataract OMIM:116300
Anterior Segment Dysgenesis 2
Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle... OMIM:610256
Cataract 20, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract, Sutural cataract OMIM:116100
Sweet Syndrome
Increased circulating interleukin 6 concentration, Acute myeloid leukemia, Chronic lymphatic leuk... ORPHA:3243
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Cataract 33, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract OMIM:611391
Cataract 15, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract OMIM:615274
Macrophage Activation Syndrome
Increased circulating interferon-gamma concentration, Increased circulating interleukin 6 concent... ORPHA:158061
Familial Hemophagocytic Lymphohistiocytosis
Abnormal circulating cytokine concentration, Increased circulating interleukin 6 concentration, I... ORPHA:540
Aicardi-Goutieres Syndrome 6
Increased circulating Interferon-alpha concentration OMIM:615010
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Hyperferritinemia With Or Without Cataract
Anterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Cataract OMIM:600886
Interstitial Cystitis
Abnormality of tumor necrosis factor secretion ORPHA:37202
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal circulating interferon-gamma concentration, Abnormal circulating interleukin concentrati... ORPHA:79124
Psoriasis-Related Juvenile Idiopathic Arthritis
Abnormality of tumor necrosis factor secretion ORPHA:85436
Infection-Related Hemolytic Uremic Syndrome
Abnormal circulating chemokine concentration, Increased circulating interleukin 6 concentration, ... ORPHA:544482
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Esophageal carcinoma, Oropharyngeal squamous cell carcinoma, Abnormal circulating interferon-gamm... ORPHA:391487

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 Klhl22

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 Klhl22.

No publications found that use IMPC mice or data for Klhl22.

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MGI Allele Allele Type Produced
Klhl22tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Klhl22em1(IMPC)J Exon Deletion Mice

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