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Gene: Klhl18 MGI:2143315

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Gene Summary

Name:
kelch-like 18
Synonyms:
N/A

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased hemoglobin content Klhl18tm1a(KOMP)Wtsi HOM Early adult 2.51×10-07
decreased erythrocyte cell number Klhl18tm1a(KOMP)Wtsi HOM Early adult 7.61×10-08
decreased hematocrit Klhl18tm1a(KOMP)Wtsi HOM Early adult 1.33×10-08
increased circulating magnesium level Klhl18tm1a(KOMP)Wtsi HOM Early adult 2.48×10-07
increased grip strength Klhl18tm1a(KOMP)Wtsi HOM Early adult 1.07×10-05

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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 Skull Dorso Ventral Orientation

14 Images

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DSS Histology

Images

8 Images

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X-ray

XRay Images Forepaw

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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Anti-nuclear antibody assay

Images

6 Images

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Legacy Phenotype Associated Images
Klhl18tm1a(KOMP)Wtsi
HOM, Male, WTSI
Klhl18tm1a(KOMP)Wtsi
HOM, Male, WTSI
Klhl18tm1a(KOMP)Wtsi
HOM, Male, WTSI
Klhl18tm1a(KOMP)Wtsi
HOM, Female, WTSI
Klhl18tm1a(KOMP)Wtsi
HOM, Female, WTSI

View all 84 images

Klhl18tm1a(KOMP)Wtsi
corneal opacity, HOM, Female, WTSI

Human diseases caused by Klhl18 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 Klhl18 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex OMIM:601071
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... OMIM:609129
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Vestibular dysf... OMIM:616515
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... OMIM:603902
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Ane... OMIM:205950
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:300448
Erythrocytosis, Familial, 6
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:617980
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Erythrocytosis, Familial, 5
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:617907
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Erythrocytosis, Familial, 4
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:611783
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Cyanosis, Transient Neonatal
Methemoglobinemia, Reticulocytosis, Anemia OMIM:613977
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... ORPHA:398063
Hypomagnesemia 6, Renal
Hypomagnesemia OMIM:613882
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Hypomagnesemia OMIM:616418
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hypomagnesemia, Leukopenia, Hyponatremia, Hyperuricemia, Anemia, Thrombocytopenia OMIM:613845
Hypocalciuric Hypercalcemia, Familial, Type I
Hypercalcemia, Hypermagnesemia OMIM:145980
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Uremic Pruritus
Increased blood urea nitrogen, Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia ORPHA:94059
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... OMIM:263300
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Hypermagnesemia OMIM:145981
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... ORPHA:766
Alpha-Thalassemia
Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism ORPHA:846
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal motor ... ORPHA:320401
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypercalcemia, Hypermagnesemia OMIM:600740
Kenny-Caffey Syndrome, Type 1
Anemia, Hypocalcemia, Hypomagnesemia OMIM:244460
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anemia, Hypokalemia, Hypomagnesemia, Hypocalcemia OMIM:175500
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Hypomagnesemia, Episodic hypokalemia ORPHA:564178
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit, Splenomegaly OMIM:133100
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Infantile hypercalcemia, Hypocalcemic sei... ORPHA:405
Helix Syndrome
Hypokalemia, Hypermagnesemia OMIM:617671
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hyperbilirubinemia, Splen... OMIM:613673
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601455
Hereditary Fructose Intolerance
Hypophosphatemia, Hyperuricemia, Hypermagnesemia ORPHA:469
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis OMIM:603529
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypocalcemia, Lymphopenia, Hypoproteinemia, Reduced proportion of CD4+ effector m... ORPHA:90362
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... ORPHA:3202
Beta-Thalassemia
Abnormal hemoglobin, Splenomegaly, Abnormality of iron homeostasis, Microcytic anemia, Anemia, Th... ORPHA:848
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypomagnesemia, Hypokalemia OMIM:618314
Iron-Refractory Iron Deficiency Anemia
Elevated hepcidin level, Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis OMIM:206200
Abcd Syndrome
Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok... OMIM:600501
Gitelman Syndrome
Hypomagnesemia, Hypocalcemia, Hypokalemia, Iron deficiency anemia, Hypermagnesemia ORPHA:358
Combined Oxidative Phosphorylation Deficiency 55
Hypophosphatemic rickets, Hypomagnesemia, Hypophosphatemia, Elevated circulating creatine kinase ... OMIM:619743
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment OMIM:125250
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, Facial palsy, EEG abnormality OMIM:617519
Colchicine Poisoning
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Leukocytosis, Abnormal blood ion con... ORPHA:31824
Hypomagnesemia 2, Renal
Hypomagnesemia, Hypokalemia OMIM:154020
Diamond-Blackfan Anemia 12
Elevated red cell adenosine deaminase level, Normochromic anemia, Reticulocytopenia, Macrocytic a... OMIM:615550
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Neurodevelopmental Disorder With Language Delay And Seizures
Hypomagnesemia OMIM:619908
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Erythroid hyperplasia OMIM:301083
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia OMIM:618849
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Leukocytosis, Elevated circulating creatine kinase concentration, H... ORPHA:94093
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypomagnesemia, Neutropenia in presence of anti-neutropil antibodies, Hypocalcemia, Splenomegaly,... ORPHA:37042
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:263400
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial nerve morphology, Heari... OMIM:601596
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, Normochromic anemia OMIM:222800
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
East Syndrome
Hypomagnesemia, Hypokalemia, Increased circulating renin level ORPHA:199343
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Absent brainstem auditory responses, Sensorineural hearing impairment, Temporal op... ORPHA:1215
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis, Heinz body anemia OMIM:141700
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Hy... ORPHA:90044
Elliptocytosis 2
Hemolytic anemia, Reticulocytosis, Elliptocytosis, Neonatal hyperbilirubinemia OMIM:130600
Mohr-Tranebjaerg Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... ORPHA:52368
Tempi Syndrome
Polycythemia, Increased hematocrit ORPHA:284227
Diarrhea 10, Protein-Losing Enteropathy Type
Hypomagnesemia, Hypocalcemia, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia OMIM:618183
Pearson Syndrome
Hypomagnesemia, Neutropenia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Splenomegaly, Reticuloc... ORPHA:699
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of the outer ear, Ab... OMIM:201050
Orthostatic Hypotension 1
Hypomagnesemia, Increased blood urea nitrogen OMIM:223360
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Pericardial Effusion, Chronic
Polycythemia OMIM:260900
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Abnormal circulating biopterin concentration, Hypomagnesemia, Abnormal circulating neopterin conc... ORPHA:1578
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Beta-Thalassemia Intermedia
Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, E... ORPHA:231222
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypomagnesemia, Hypokalemia, Increased circulating renin level OMIM:612780
Thyrotoxic Periodic Paralysis
Hypomagnesemia, Episodic hypokalemia, Mildly elevated creatine kinase, Transient hypophosphatemia... ORPHA:79102
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia ORPHA:428
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Increased serum prostaglandin E2, Hypokalemia, Abnormal magnesium concentration, Increased circul... OMIM:241150
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Gitelman Syndrome
Hypomagnesemia, Hypokalemia, Increased circulating renin level OMIM:263800
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Hypermanganesemia With Dystonia 1
Polycythemia, Increased total iron binding capacity, Hypermanganesemia, Unconjugated hyperbilirub... OMIM:613280
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypomagnesemia, Hypocalcemia, Hypocalcemic tetany ORPHA:73224
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Hypomagnesemia OMIM:248190
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Optic disc pallor, Abnormal auditory evoked potentials OMIM:619260
Bartter Syndrome, Type 1, Antenatal
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Hypercalcemia, Increased serum pr... OMIM:601678
Cystinosis, Nephropathic
Hypomagnesemia, Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Splenomegaly, Decreased ... OMIM:219800
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Decreased nerve conduction velocity, Prolonged br... ORPHA:206443
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... ORPHA:231226
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Splenomegaly, Extramedullary ... ORPHA:231214
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Hypomagnesemia 3, Renal
Hypomagnesemia, Hyperuricemia OMIM:248250
Bartter Syndrome Type 4
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Hyponatremia, Hypochloremia ORPHA:89938
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Adult Krabbe Disease
EEG abnormality, Prolonged brainstem auditory evoked potentials ORPHA:206448
Bartter Syndrome, Type 2, Antenatal
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Increased serum prostaglandin E2,... OMIM:241200
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Arthrogryposis, Distal, Type 2A
Hearing impairment, Abnormal auditory evoked potentials OMIM:193700
Gaisböck Syndrome
Increased hematocrit, Elevated plasma cell count, Hyperproteinemia, Increased mean corpuscular he... ORPHA:90041
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Acute myeloid l... OMIM:260400
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Absent brainstem auditory responses, Optic nerve hypoplasia, De... ORPHA:101085
Adult-Onset Autosomal Dominant Leukodystrophy
Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Orthostatic hypot... ORPHA:99027
Infantile Krabbe Disease
Optic atrophy, Hearing impairment, Decreased nerve conduction velocity, Prolonged brainstem audit... ORPHA:206436
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:141750
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Short-segment aganglionic megacolon, Absent brainstem auditory responses, Hypoplasia of the semic... OMIM:609136
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Blackfan-Diamond Anemia
Increased mean corpuscular volume, Neutropenia, Persistence of hemoglobin F, Leukopenia, Erythroi... ORPHA:124
Thymoma
Imbalanced hemoglobin synthesis, Leukemia, Aplastic anemia, Pure red cell aplasia ORPHA:99867
Lead Poisoning
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Imbalanced hemo... ORPHA:330015
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hemolytic anemia, Hepatosplenomegaly, Hypocalcemia, Hypomagnesemia OMIM:619503
Trisomy 10P
EEG with focal spikes, Abnormality of the ear, Low voltage EEG, EEG with burst suppression, Abnor... ORPHA:171929
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Optic atrophy, Macrotia, Abnormality of peripheral nerve con... ORPHA:90321
Mogs-Cdg
Optic atrophy, Absent brainstem auditory responses, Sensorineural hearing impairment ORPHA:79330
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin ORPHA:847
Cerebrotendinous Xanthomatosis
Optic neuropathy, Abnormal motor evoked potentials, Decreased nerve conduction velocity, Optic at... ORPHA:909
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:301040
Cockayne Syndrome B
Sensorineural hearing impairment, Abnormal pinna morphology, Decreased nerve conduction velocity,... OMIM:133540
Cockayne Syndrome A
Sensorineural hearing impairment, Abnormal pinna morphology, Decreased nerve conduction velocity,... OMIM:216400
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials ORPHA:401973
Duodenal Neuroendocrine Tumor
Increased hematocrit, Iron deficiency anemia ORPHA:100076

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 Klhl18

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 Klhl18.

There are 8 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Identification and characterisation of spontaneous mutations causing deafness from a targeted knockout programme. BMC biology (March 2022) Klhl18tm1a(KOMP)Wtsi PMC8928630
Inner hair cell dysfunction in Klhl18 mutant mice leads to low frequency progressive hearing loss. PloS one (October 2021) Klhl18tm1a(KOMP)Wtsi PMC8486144
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Klhl18tm1a(KOMP)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Klhl18tm1a(KOMP)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Klhl18tm1a(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Klhl18tm1a(KOMP)Wtsi