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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 food intake Ccdc122tm1a(KOMP)Wtsi HOM Early adult 1.03×10-11
increased red blood cell distribution width Ccdc122tm1a(KOMP)Wtsi HOM Early adult 1.82×10-12
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
decreased total body fat amount Ccdc122tm1a(KOMP)Wtsi HOM Early adult 4.21×10-09
increased respiratory quotient Ccdc122tm1a(KOMP)Wtsi HOM Early adult 1.19×10-05

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 Dorso Ventral Orientation

27 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 Whole Body Lateral Orientation

28 Images

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X-ray

XRay Images Skull Lateral Orientation

29 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
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... ORPHA:67044
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery... OMIM:615631
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
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... ORPHA:86841
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Small for gestational age, Anemia of inadequate production, An... OMIM:224120
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia, Obesity OMIM:613886
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype... OMIM:616860
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Pick Disease Of Brain
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition OMIM:172700
Obesity Due To Prohormone Convertase I Deficiency
Increased adipose tissue, Obesity, Failure to thrive, Polyphagia, Childhood-onset truncal obesity ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Increased adipose tissue, Obesity, Failure to thrive, Polyphagia, Childhood-onset truncal obesity ORPHA:71526
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Obesity OMIM:618406
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Obesity, Aggressive behavior ORPHA:329249
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Obesity And Hypopigmentation
Polyphagia, Obesity OMIM:620195
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... ORPHA:71275
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity, Polyphagia, Self-mutilation, Aggressive behavior OMIM:616521
Bardet-Biedl Syndrome 22
Polyphagia, Obesity, Large for gestational age OMIM:617119
Orotic Aciduria
Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi... OMIM:258900
Frontotemporal Dementia
Polyphagia, Disinhibition, Inappropriate laughter OMIM:600274
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... OMIM:300908
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,... ORPHA:98870
Leptin Deficiency Or Dysfunction
Polyphagia, Obesity OMIM:614962
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Failure to thrive, Flexion contracture, Anisocytosis, Camptodactyly OMIM:604273
Huntington Disease
Aggressive behavior, Oral-pharyngeal dysphagia, Weight loss, Addictive alcohol use, Agitation, Co... ORPHA:399
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Polyphagia, Decreased body weight OMIM:620085
14Q11.2 Microduplication Syndrome
Polyphagia, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior ORPHA:261229
Leptin Receptor Deficiency
Abnormal eating behavior, Polyphagia, Obesity, Aggressive behavior OMIM:614963
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... ORPHA:33543
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia ORPHA:163690
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Polyphagia, Inappropriate laughter, Obesity ORPHA:411515
Obesity Due To Sim1 Deficiency
Polyphagia, Obesity, Attention deficit hyperactivity disorder ORPHA:369873
Renal Glucosuria
Polydipsia, Polyphagia OMIM:233100
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia OMIM:222100
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia OMIM:616959
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia, Obesity ORPHA:177910
6Q16 Microdeletion Syndrome
Polyphagia, Obesity, Abnormal temper tantrums ORPHA:171829
Schaaf-Yang Syndrome
Failure to thrive in infancy, Impulsivity, Flexion contracture, Obesity, Skin-picking, Camptodact... OMIM:615547
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr... ORPHA:231226
2Q23.1 Microdeletion Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Paroxysmal bu... ORPHA:228402
Graves Disease, Susceptibility To, 1
Hyperactivity, Polyphagia, Weight loss OMIM:275000
Hyperinsulinism Due To Ucp2 Deficiency
Agitation, Polyphagia, Large for gestational age ORPHA:276556
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Agitation, Polyphagia, Large for gestational age ORPHA:324575
Bardet-Biedl Syndrome 9
Truncal obesity, Polydipsia, Polyphagia, Obesity OMIM:615986
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Agitation, Polyphagia, Large for gestational age ORPHA:276575
Temple Syndrome
Small for gestational age, Polyphagia, Obesity ORPHA:254516
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Agitation, Polyphagia, Large for gestational age ORPHA:276580
Body Mass Index Quantitative Trait Locus 19
Polyphagia, Obesity OMIM:617885
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Failure to thrive, Anisocytosis, Leukocytosis, Hepatosplenomeg... OMIM:618278
Cebalid Syndrome
Polyphagia, Congenital diaphragmatic hernia OMIM:618774
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia OMIM:606407
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia OMIM:607485
Pediatric-Onset Graves Disease
Hyperactivity, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Polydipsia, Fa... ORPHA:525731
Chromosome 22Q13 Duplication Syndrome
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity OMIM:615538
Man1B1-Cdg
Truncal obesity, Polyphagia ORPHA:397941
Obesity Due To Congenital Leptin Deficiency
Decreased proportion of CD4-positive helper T cells, Polyphagia, Obesity ORPHA:66628
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Polyphagia, Abnormal dental enamel morphology, Obesity ORPHA:251004
Trisomy 18P
Polyphagia, Attention deficit hyperactivity disorder ORPHA:1715
Angelman Syndrome
Hyperactivity, Aggressive behavior, Tongue thrusting, Obesity, Self-injurious behavior, Inappropr... ORPHA:72
Obesity Due To Leptin Receptor Gene Deficiency
Decreased proportion of CD4-positive helper T cells, Polyphagia, Obesity ORPHA:179494
Luscan-Lumish Syndrome
Polyphagia, Obesity, Aggressive behavior OMIM:616831
Wagro Syndrome
Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Polyphagia OMIM:612469
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Polyphagia, Obesity OMIM:609734
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Scarring, Anisocytosis, Increased connective tissue, Scarring ... ORPHA:79277
Insulinoma
Polyphagia, Increased body weight ORPHA:97279
Intellectual Developmental Disorder, Autosomal Dominant 1
Aggressive behavior, Self-injurious behavior, Inappropriate laughter, Bruxism, Recurrent hand fla... OMIM:156200
Secondary Short Bowel Syndrome
Failure to thrive, Polyphagia, Weight loss ORPHA:95427
Magel2-Related Prader-Willi-Like Syndrome
Impulsivity, Flexion contracture, Increased body weight, Abdominal obesity, Abnormal temper tantr... ORPHA:398069
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Failure to thrive, Small for gestational age, Bulimia, Obesity, Self-injurious behavior, Abnormal... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Failure to thrive, Small for gestational age, Bulimia, Obesity, Self-injurious behavior, Abnormal... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Failure to thrive, Small for gestational age, Bulimia, Obesity, Self-injurious behavior, Abnormal... ORPHA:177901
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small for gestational age, Bulimia, Obesity, Self-injurious behavior, Abnormal temper tantrums, S... ORPHA:98754
Sim1-Related Prader-Willi-Like Syndrome
Obesity, Abdominal obesity, Skin-picking, Abnormal temper tantrums, Failure to thrive, Polyphagia ORPHA:398079
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Lipodystrophy, Reduced intraabdominal adipose tissue, Elevat... OMIM:269700
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Restlessness, Polyphagia, Self-mutilation, Aggressive behavior ORPHA:251028
7Q11.23 Microduplication Syndrome
Inguinal hernia, Collectionism, Hyperactivity, Congenital diaphragmatic hernia, Aggressive behavi... ORPHA:96121
Adnp Syndrome
Inguinal hernia, Aggressive behavior, Oral-pharyngeal dysphagia, Truncal obesity, Compulsive beha... ORPHA:404448
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Lipodystrophy, Reduced intraabdominal adipose tissue, Spleno... OMIM:608594
Chromosome Xq26.3 Duplication Syndrome
Polyphagia OMIM:300942
Weaver Syndrome
Inguinal hernia, Camptodactyly, Umbilical hernia, Joint contracture of the hand, Polyphagia OMIM:277590
Prader-Willi Syndrome
Failure to thrive in infancy, Obesity, Self-injurious behavior, Abdominal obesity, Attention defi... OMIM:176270
Gangliocytoma
Polyphagia ORPHA:251937
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Bruxism, Obesity, Truncal obesity, Compulsive beha... OMIM:615873
Prader-Willi Syndrome
Abdominal obesity, Failure to thrive, Polyphagia, Attention deficit hyperactivity disorder ORPHA:739
Pseudohypoparathyroidism Type 1C
Enamel hypoplasia, Polyphagia, Obesity ORPHA:79444
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Cyanosis, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive behaviors, Polydipsia... ORPHA:293987
Pseudohypoparathyroidism Type 1A
Enamel hypoplasia, Polyphagia, Obesity ORPHA:79443
Craniopharyngioma
Polyphagia, Obesity ORPHA:54595
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavior, Fixated inte... OMIM:620330
X-Linked Acrogigantism
Polyphagia ORPHA:300373
1P36 Deletion Syndrome
Camptodactyly of finger, Abnormality of the spleen, Polyphagia, Obesity, Self-injurious behavior,... ORPHA:1606
Chromosome 1P36 Deletion Syndrome, Distal
Camptodactyly of finger, Aggressive behavior, Obesity, Dysphagia, Camptodactyly, Polyphagia, Self... OMIM:607872
Alström Syndrome
Dorsocervical fat pad, Splenomegaly, Obesity, Hepatosplenomegaly, Truncal obesity, Polyphagia 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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