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Gene: Ccdc122 MGI:1918358

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Gene Summary

Name:
coiled-coil domain containing 122
Synonyms:
4933415L06Rik

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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
increased grip strength Ccdc122tm1a(KOMP)Wtsi HET Early adult 1.68×10-06
increased respiratory quotient Ccdc122tm1a(KOMP)Wtsi HOM Early adult 1.19×10-05
increased lean body mass Ccdc122tm1a(KOMP)Wtsi HOM Early adult 7.88×10-09
decreased circulating fructosamine level Ccdc122tm1a(KOMP)Wtsi HOM   Early adult 5.44×10-05
increased red blood cell distribution width Ccdc122tm1a(KOMP)Wtsi HOM Early adult 1.82×10-12
increased food intake Ccdc122tm1a(KOMP)Wtsi HOM Early adult 1.03×10-11
decreased total body fat amount Ccdc122tm1a(KOMP)Wtsi HOM Early adult 4.21×10-09

Download data as:  TSV  XLS

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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 Lateral Orientation

29 Images

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X-ray

XRay Images Forepaw

31 Images

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X-ray

XRay Images Whole Body Dorso Ventral

28 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

27 Images

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X-ray

XRay Images Whole Body Lateral Orientation

28 Images

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Legacy Phenotype Associated Images
Ccdc122tm1a(KOMP)Wtsi
HOM, Male, WTSI
Ccdc122tm1a(KOMP)Wtsi
HOM, Male, WTSI
Ccdc122tm1a(KOMP)Wtsi
HOM, Male, WTSI
Ccdc122tm1a(KOMP)Wtsi
HOM, Male, WTSI
Ccdc122tm1a(KOMP)Wtsi
HOM, Male, WTSI

View all 143 images

Ccdc122tm1a(KOMP)Wtsi
abnormal retinal pigmentation, HOM, Male, WTSI
Ccdc122tm1a(KOMP)Wtsi
left eye, HET, Male, WTSI
Ccdc122tm1a(KOMP)Wtsi
abnormal retinal pigmentation, HOM, Female, WTSI
Ccdc122tm1a(KOMP)Wtsi
abnormal retinal pigmentation, HOM, Female, WTSI
Ccdc122tm1a(KOMP)Wtsi
right eye, HOM, Female, WTSI

View all 10 images

Human diseases caused by Ccdc122 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 Ccdc122 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis OMIM:603529
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte morphology, Macrocytic anemia, A... ORPHA:86841
Obesity Due To Melanocortin 4 Receptor Deficiency
Polyphagia, Obesity, Childhood-onset truncal obesity, Increased adipose tissue ORPHA:71529
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis OMIM:206200
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Obesity, Polyphagia ORPHA:329249
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate... OMIM:224120
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Obesity, Motor stereotypy OMIM:613886
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hypochromia, Anemia, Decre... OMIM:616860
Rh-Null, Amorph Type
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis OMIM:617970
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P... OMIM:300835
Pick Disease Of Brain
Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition OMIM:172700
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Obesity, Polyphagia, Childhood-onset truncal obesity, Increased adipose tissue ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Obesity, Polyphagia, Childhood-onset truncal obesity, Increased adipose tissue ORPHA:71526
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Obesity OMIM:618406
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Obesity And Hypopigmentation
Polyphagia, Obesity OMIM:620195
Rh Deficiency Syndrome
Stomatocytosis, Hepatosplenomegaly, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytos... ORPHA:71275
Intellectual Developmental Disorder, Autosomal Dominant 39
Polyphagia, Obesity, Aggressive behavior, Self-mutilation OMIM:616521
Bardet-Biedl Syndrome 22
Polyphagia, Obesity, Large for gestational age OMIM:617119
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Failure to thrive, Anisocytosis, Hypochromia, Poikilocy... OMIM:258900
Obesity Due To Sim1 Deficiency
Attention deficit hyperactivity disorder, Polyphagia, Obesity ORPHA:369873
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Abnormal erythrocyte morphology, Anisocytosis, Poikilocytosis,... ORPHA:98870
Frontotemporal Dementia
Polyphagia, Inappropriate laughter, Disinhibition OMIM:600274
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Leptin Deficiency Or Dysfunction
Polyphagia, Obesity OMIM:614962
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Camptodactyly, Flexion contracture, Failure to thrive, Anisocytosis OMIM:604273
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Anisocytos... OMIM:301310
14Q11.2 Microduplication Syndrome
Attention deficit hyperactivity disorder, Polyphagia, Obesity, Aggressive behavior ORPHA:261229
Huntington Disease
Decreased body mass index, Oral-pharyngeal dysphagia, Disinhibition, Polyphagia, Addictive alcoho... ORPHA:399
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Polyphagia, Failure to thrive, Decreased body weight OMIM:620085
Kleine-Levin Syndrome
Polydipsia, Abnormal eating behavior, Sweet craving, Polyphagia, Repetitive compulsive behavior, ... ORPHA:33543
Leptin Receptor Deficiency
Aggressive behavior, Obesity, Abnormal eating behavior, Polyphagia OMIM:614963
Hypotonia-Cystinuria Syndrome
Polyphagia, Failure to thrive ORPHA:163690
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Obesity, Inappropriate laughter, Hyperactivity ORPHA:411515
Retinitis Pigmentosa And Erythrocytic Microcytosis
Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ... OMIM:616959
Renal Glucosuria
Polyphagia, Polydipsia OMIM:233100
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia OMIM:222100
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia, Obesity ORPHA:177910
6Q16 Microdeletion Syndrome
Abnormal temper tantrums, Polyphagia, Obesity ORPHA:171829
Schaaf-Yang Syndrome
Failure to thrive in infancy, Obesity, Polyphagia, Skin-picking, Camptodactyly, Flexion contractu... OMIM:615547
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Failure to thriv... ORPHA:231226
Intellectual Developmental Disorder, Autosomal Dominant 72
Attention deficit hyperactivity disorder, Polyphagia, Obesity, Overfriendliness OMIM:620439
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Polyphagia, Motor stereotypy, Hyperactivity, Paroxysmal bursts of laughter ORPHA:228402
Joubert Syndrome 10
Polyphagia, Obesity, Frequent temper tantrums, Decreased body weight OMIM:300804
Hyperinsulinism Due To Ucp2 Deficiency
Polyphagia, Large for gestational age, Agitation ORPHA:276556
Hyperinsulinism Due To Hnf1A Deficiency
Polyphagia, Large for gestational age, Small for gestational age, Agitation ORPHA:324575
Graves Disease
Polyphagia, Weight loss, Hyperactivity OMIM:275000
Bardet-Biedl Syndrome 9
Polyphagia, Obesity, Polydipsia, Truncal obesity OMIM:615986
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Polyphagia, Large for gestational age, Agitation ORPHA:276575
Temple Syndrome
Polyphagia, Obesity, Small for gestational age ORPHA:254516
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Polyphagia, Large for gestational age, Agitation ORPHA:276580
Body Mass Index Quantitative Trait Locus 19
Polyphagia, Obesity OMIM:617885
Cebalid Syndrome
Polyphagia, Congenital diaphragmatic hernia OMIM:618774
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Failure to thrive, Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Anisocytosi... OMIM:618278
Hypotonia-Cystinuria Syndrome
Polyphagia, Failure to thrive OMIM:606407
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Disinhibition, Polyphagia, Repetitive compulsive behavior, Agitation, Hypersexuality OMIM:607485
Pediatric-Onset Graves Disease
Polydipsia, Failure to thrive, Splenomegaly, Polyphagia, Hyperactivity, Thrombocytopenia, Neutrop... ORPHA:525731
Man1B1-Cdg
Polyphagia, Truncal obesity ORPHA:397941
Chromosome 22Q13 Duplication Syndrome
Polyphagia, Attention deficit hyperactivity disorder, Impulsivity OMIM:615538
Obesity Due To Congenital Leptin Deficiency
Polyphagia, Obesity, Decreased proportion of CD4-positive helper T cells ORPHA:66628
Trisomy 18P
Polyphagia, Attention deficit hyperactivity disorder ORPHA:1715
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Polyphagia, Obesity, Episodic hemolytic anemia ORPHA:251004
Angelman Syndrome
Self-injurious behavior, Obesity, Inappropriate laughter, Recurrent hand flapping, Polyphagia, Ag... ORPHA:72
Obesity Due To Leptin Receptor Gene Deficiency
Polyphagia, Obesity, Decreased proportion of CD4-positive helper T cells ORPHA:179494
Wagro Syndrome
Obesity, Polyphagia, Aggressive behavior, Compulsive behaviors, Agitation OMIM:612469
Luscan-Lumish Syndrome
Polyphagia, Obesity, Aggressive behavior OMIM:616831
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Polyphagia, Obesity OMIM:609734
Insulinoma
Increased body weight, Polyphagia ORPHA:97279
Congenital Erythropoietic Porphyria
Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anisocytosis, Increased connect... ORPHA:79277
Intellectual Developmental Disorder, Autosomal Dominant 1
Self-injurious behavior, Bruxism, Inappropriate laughter, Recurrent hand flapping, Polyphagia, Ag... OMIM:156200
Secondary Short Bowel Syndrome
Polyphagia, Weight loss, Failure to thrive ORPHA:95427
Magel2-Related Prader-Willi-Like Syndrome
Abnormal temper tantrums, Failure to thrive, Increased body weight, Polyphagia, Skin-picking, Abd... ORPHA:398069
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Self-injurious behavior, Abnormal temper tantrums, Failure to thrive, Bulimia, Obesity, Obsessive... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Self-injurious behavior, Abnormal temper tantrums, Failure to thrive, Bulimia, Obesity, Obsessive... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Self-injurious behavior, Abnormal temper tantrums, Failure to thrive, Bulimia, Obesity, Obsessive... ORPHA:177901
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Self-injurious behavior, Abnormal temper tantrums, Failure to thrive, Bulimia, Obesity, Polyphagi... ORPHA:98754
Sim1-Related Prader-Willi-Like Syndrome
Abnormal temper tantrums, Failure to thrive, Obesity, Polyphagia, Skin-picking, Abdominal obesity ORPHA:398079
Lipodystrophy, Congenital Generalized, Type 2
Umbilical hernia, Elevated hemoglobin A1c, Reduced subcutaneous adipose tissue, Splenomegaly, Pol... OMIM:269700
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Polyphagia, Restlessness, Aggressive behavior, Self-mutilation ORPHA:251028
Adnp Syndrome
Abnormal temper tantrums, Oral-pharyngeal dysphagia, Umbilical hernia, Inguinal hernia, Polyphagi... ORPHA:404448
7Q11.23 Microduplication Syndrome
Self-injurious behavior, Obesity, Inguinal hernia, Congenital diaphragmatic hernia, Aggressive be... ORPHA:96121
Lipodystrophy, Congenital Generalized, Type 1
Umbilical hernia, Reduced subcutaneous adipose tissue, Splenomegaly, Polyphagia, Lipodystrophy, R... OMIM:608594
Weaver Syndrome
Joint contracture of the hand, Umbilical hernia, Inguinal hernia, Polyphagia, Camptodactyly OMIM:277590
Chromosome Xq26.3 Duplication Syndrome
Polyphagia OMIM:300942
Prader-Willi Syndrome
Self-injurious behavior, Class III obesity, Failure to thrive in infancy, Obesity, Polyphagia, At... OMIM:176270
Gangliocytoma
Polyphagia ORPHA:251937
Helsmoortel-Van Der Aa Syndrome
Failure to thrive, Bruxism, Obesity, Polyphagia, Attention deficit hyperactivity disorder, Dyspha... OMIM:615873
Prader-Willi Syndrome
Polyphagia, Attention deficit hyperactivity disorder, Failure to thrive, Abdominal obesity ORPHA:739
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Self-injurious behavior, Polydipsia, Obesity, Cyanosis, Polyphagia, Aggressive behavior, Compulsi... ORPHA:293987
Pseudohypoparathyroidism Type 1C
Polyphagia, Obesity, Enamel hypoplasia ORPHA:79444
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Self-injurious behavior, Fixated interests, Umbilical hernia, Hair-pulling, Polyphagia, Attention... OMIM:620330
Craniopharyngioma
Polyphagia, Obesity ORPHA:54595
Pseudohypoparathyroidism Type 1A
Polyphagia, Obesity, Enamel hypoplasia ORPHA:79443
X-Linked Acrogigantism
Polyphagia ORPHA:300373
1P36 Deletion Syndrome
Self-injurious behavior, Failure to thrive, Camptodactyly of finger, Abnormality of the spleen, O... ORPHA:1606
Chromosome 1P36 Deletion Syndrome, Distal
Camptodactyly of finger, Obesity, Oppositional defiant disorder, Self-mutilation, Aggressive beha... OMIM:607872
Alström Syndrome
Hepatosplenomegaly, Obesity, Dorsocervical fat pad, Splenomegaly, Polyphagia, Truncal obesity ORPHA:64

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 Ccdc122

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 Ccdc122.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Ccdc122tm1a(KOMP)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Ccdc122tm1a(KOMP)Wtsi Ccdc122tm1a(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Ccdc122tm1a(KOMP)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Ccdc122tm1a(KOMP)Wtsi PMC5827107

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MGI Allele Allele Type Produced
Ccdc122tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Ccdc122tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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